• Piri Keşif Aracı

Arama ipuçları nelerdir?
1.  sayfa ve
1
A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss.
e-Kitap

e-Kitap
Open Access
Kaynak :
Internet Archive Books
Dergi:
American Journal of Medical Genetics. Part a
Yayıncı:
American Journal of Medical Genetics. Part a
Yazar(lar) :
Samantha JL Knight , Andrew P Jackson , David A Keays , Jenny C Taylor , Usha Kini , Helen Stewart , Kaseem Ajilogba , Louise S Bicknell , Victoria Harrison , Elham Sadighi Akha , Grace Yoon , Jennie E Murray , Alistair T Pagnamenta
Yıl :
2012
American Journal of Medical Genetics. Part a
Yayıncı Web Sitesi
Tam Metin
Kaydet
This article is from American Journal of Medical Genetics. Part a, volume 158A. Abstract Primary microcephaly is a genetically heterogeneous condition characterized by reduced head circumference (−3 SDS or more) and mild-to-moderate learning disability. Here, we describe clinical and molecular investigations of a microcephalic child with sensorineural hearing loss. Although consanguinity was unreported initially, detection of 13.7 Mb of copy neutral loss of heterozygosity (cnLOH) on chromosome 9 implicated the CDK5RAP2 gene. Targeted sequencing identified a homozygous E234X mutation, only the third mutation to be described in CDK5RAP2, the first in an individual of non-Pakistani descent. Sensorineural hearing loss is not generally considered to be consistent with autosomal recessive microcephaly and therefore it seems likely that the deafness in this individual is caused by the co-occurrence of a further gene mutation, independent of CDK5RAP2. Nevertheless, further detailed clinical descriptions of rare CDK5RAP2 patients, including hearing assessments will be needed to resolve fully the phenotypic range associated with mutations in this gene. This study also highlights the utility of SNP-array testing to guide disease gene identification where an autosomal recessive condition is plausible. © 2012 Wiley Periodicals, Inc.
DOI : doi:10.1002/ajmg.a.35558
Cilt :158A
ISSN :1552-4825
Sınıflandırma :
2
Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes.
e-Kitap

e-Kitap
Open Access
Kaynak :
Internet Archive Books
Dergi:
American Journal of Medical Genetics. Part a
Yayıncı:
American Journal of Medical Genetics. Part a
Yazar(lar) :
Alessandro Terrinoni , Gerry Melino , Laura Bui , Mauro Paradisi , Marco Castori , Valeria Serra
Yıl :
2011
American Journal of Medical Genetics. Part a
Yayıncı Web Sitesi
Tam Metin
Kaydet
This article is from American Journal of Medical Genetics. Part a, volume 155. Abstract Heterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is inconsistent. This suggests an appreciable phenotypic continuity within the TP63-related disorders. We report a 3-month-old boy ascertained for congenital scalp erosion and mild features of ectodermal dysplasia. His mother showed full-blown characteristics of Rapp-Hodgkin syndrome plus intense abdominal and popliteal freckling. Molecular investigation identified the novel TP63 mutation c.1697delG. We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and isolated split hand/foot malformation, respectively. These results demonstrated complex behavior of c.1697delG in the TA of genes involved in epidermal differentiation and development and shed further light in the physiopathology of TP63-related disorders. © 2011 Wiley Periodicals, Inc.
DOI : doi:10.1002/ajmg.a.34335
Cilt :155
ISSN :1552-4825
Sınıflandırma :
3
Prosaposin Deficiency and Saposin B Deficiency (Activator-Deficient Metachromatic Leukodystrophy): Report on Two Patients Detected by Analysis of Urinary Sphingolipids and Carrying Novel PSAP Gene Mutations.
e-Kitap

e-Kitap
Open Access
Kaynak :
Internet Archive Books
Dergi:
American Journal of Medical Genetics. Part a
Yayıncı:
American Journal of Medical Genetics. Part a
Yazar(lar) :
Klaus Harzer , Barbara C Paton , Ingeborg Krageloh-Mann , Martin Staudt , Heidi Mayrhofer , Margret Petermoller , Milan Elleder , Befekadu Asfaw , Petr Chrastina , Linda Berna , Lenka Dvorakova , Helena Myskova , Martin Hrebicek , Jana Ledvinova , Ladislav Kuchar
Yıl :
2009
American Journal of Medical Genetics. Part a
Yayıncı Web Sitesi
Tam Metin
Kaydet
This article is from American Journal of Medical Genetics. Part a, volume 149A. Abstract Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65–70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A–D. We report on two new patients with PSAP gene defects; one, with pSap-d, who had a severe neurovisceral dystrophy and died as a neonate, and the other with SapB-d, who presented with a metachromatic leukodystrophy-like disorder but had normal arylsulfatase activity. Screening for urinary sphingolipids was crucial to the diagnosis of both patients, with electrospray ionization tandem mass spectrometry also providing quantification. The pSap-d patient is the first case with this condition where urinary sphingolipids have been investigated. Multiple sphingolipids were elevated, with globotriaosylceramide showing the greatest increase. Both patients had novel mutations in the PSAP gene. The pSap-d patient was homozygous for a splice-acceptor site mutation two bases upstream of exon 10. This mutation led to a premature stop codon and yielded low levels of transcript. The SapB-d patient was a compound heterozygote with a splice-acceptor site variant exclusively affecting the SapB domain on one allele, and a 2 bp deletion leading to a null, that is, pSap-d mutation, on the other allele. Phenotypically, pSap-d is a relatively uniform disease of the neonate, whereas SapB-d is heterogeneous with a spectrum similar to that in metachromatic leukodystrophy. The possible existence of genotypes and phenotypes intermediate between those of pSap-d and the single saposin deficiencies is speculated. © 2009 Wiley-Liss, Inc.
DOI : doi:10.1002/ajmg.a.32712
Cilt :149A
ISSN :1552-4825
Sınıflandırma :
4
Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers.
e-Kitap

e-Kitap
Open Access
Kaynak :
Internet Archive Books
Dergi:
American Journal of Medical Genetics. Part a
Yayıncı:
American Journal of Medical Genetics. Part a
Yazar(lar) :
Joseph G Gleeson , Rustin A Massoudi , Shifteh Sattar , Maha S Zaki
Yıl :
2011
American Journal of Medical Genetics. Part a
Yayıncı Web Sitesi
Tam Metin
Kaydet
This article is from American Journal of Medical Genetics. Part a, volume 155. Abstract Disorders within the “ciliopathy” spectrum include Joubert (JS), Bardet–Biedl syndromes (BBS), and nephronophthisis (NPHP). Although mutations in single ciliopathy genes can lead to these different syndromes between families, there have been no reports of phenotypic discordance within a single family. We report on two consanguineous families with discordant ciliopathies in sibling. In Ciliopathy-672, the older child displayed dialysis-dependent NPHP whereas the younger displayed the pathognomonic molar tooth MRI sign (MTS) of JS. A second branch displayed two additional children with NPHP. In Ciliopathy-1491, the oldest child displayed classical features of BBS whereas the two younger children displayed the MTS. Importantly, the children with BBS and NPHP lacked MTS, whereas children with JS lacked obesity or NPHP, and the child with BBS lacked MTS and NPHP. Features common to all three disorders included intellectual disability, postaxial polydactyly, and visual reduction. The variable phenotypic expressivity in this family suggests that genetic modifiers may determine specific clinical features within the ciliopathy spectrum. © 2011 Wiley Periodicals, Inc.
DOI : doi:10.1002/ajmg.a.34173
Cilt :155
ISSN :1552-4825
Sınıflandırma :
5
Creatine Transporter Defect Diagnosed by Proton NMR Spectroscopy in Males With Intellectual Disability.
e-Kitap

e-Kitap
Open Access
Kaynak :
Internet Archive Books
Dergi:
American Journal of Medical Genetics. Part a
Yayıncı:
American Journal of Medical Genetics. Part a
Yazar(lar) :
Alessandra Renieri , Joussef Hayek , Ron A Wevers , Udo Engelke , Francesca Mari , Sabrina Buoni , Lucia Monti , Marco Fichera , Michele Falco , Marco Calderisi , Antonio Vivi , Marzia Pollazzon , Maria Tassini , Maria Antonietta Mencarelli
Yıl :
2011
American Journal of Medical Genetics. Part a
Yayıncı Web Sitesi
Tam Metin
Kaydet
This article is from American Journal of Medical Genetics. Part a, volume 155. Abstract Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID). Diagnosis cannot be established on clinical grounds and is often based on the assessment of brain creatine levels by magnetic resonance spectroscopy (MRS). Considering high costs of MRS and necessity of sedation, this technique cannot be used as a first level-screening test. Likewise, gene test analysis is time consuming and not easily accessible to all laboratories. In this article feasibility of urine analysis (creatine/creatinine (Cr/Crn) ratio) performed by nuclear magnetic resonance (NMR) as a first level-screening test is explored. Before running a systematic selection of cases a preliminary study for further molecular analysis is shown. NMR urine spectra (n = 1,347) of male patients with an ID without a clinically recognizable syndrome were measured. On the basis of abnormal Cr/Crn ratio, three patients with the highest values were selected for molecular analysis. A confirmatory second urine test was positive in two patients and diagnosis was further confirmed by a decreased brain creatine level and by SLC6A8 gene analysis. A de novo mutation was identified in one. Another patient inherited a novel mutation from the mother who also has a mild ID. A repeat urine test was negative in the third patient and accordingly creatine level in the brain and SLC6A8 gene analysis both gave a normal result. We conclude that Cr/Crn ratio measured by NMR for male patients represents a rapid and useful first level screening test preceding molecular analysis. © 2011 Wiley-Liss, Inc.
DOI : doi:10.1002/ajmg.a.34208
Cilt :155
ISSN :1552-4825
Sınıflandırma :
6
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
e-Kitap

e-Kitap
Open Access
Kaynak :
Internet Archive Books
Dergi:
American Journal of Medical Genetics. Part a
Yayıncı:
American Journal of Medical Genetics. Part a
Yazar(lar) :
Shamima Rahman , Keith R Sibson , Keith J Lindley , Maureen A Cleary , Yehani Wedatilake , Rojeen Shahni
Yıl :
2013
American Journal of Medical Genetics. Part a
Yayıncı Web Sitesi
Tam Metin
Kaydet
This article is from American Journal of Medical Genetics. Part a, volume 161. Abstract Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein synthesis as well as ribosome recycling. We report on a new case of myopathy, lactic acidosis and sideroblastic anemia (MLASA) syndrome caused by defective mitochondrial tyrosyl aminoacylation. The patient presented at 1 year with anemia initially attributed to iron deficiency. Bone marrow aspirate at 5 years revealed ringed sideroblasts but transfusion dependency did not occur until 11 years. Other clinical features included lactic acidosis, poor weight gain, hypertrophic cardiomyopathy and severe myopathy leading to respiratory failure necessitating ventilatory support. Long-range PCR excluded mitochondrial DNA rearrangements. Clinical diagnosis of MLASA prompted direct sequence analysis of the YARS2 gene encoding the mitochondrial tyrosyl-tRNA synthetase, which revealed homozygosity for a known pathogenic mutation, c.156C>G;p.F52L. Comparison with four previously reported cases demonstrated remarkable clinical homogeneity. First line investigation of MLASA should include direct sequence analysis of YARS2 and PUS1 (encoding a tRNA modification factor) rather than muscle biopsy. Early genetic diagnosis is essential for counseling and to facilitate appropriate supportive therapy. Reasons for segregation of specific clinical phenotypes with particular mitochondrial aminoacyl tRNA-synthetase defects remain unknown. © 2013 Wiley Periodicals, Inc.
DOI : doi:10.1002/ajmg.a.36065
Cilt :161
ISSN :1552-4825
Sınıflandırma :
7
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision.
e-Kitap

e-Kitap
Open Access
Kaynak :
Internet Archive Books
Dergi:
American Journal of Medical Genetics. Part a
Yayıncı:
American Journal of Medical Genetics. Part a
Yazar(lar) :
Andrea Superti-Furga , Bernhard Zabel , Sheila Unger , Juergen Spranger , David Sillence , Ravi Savarirayan , Stephen Robertson , David L Rimoin , Gen Nishimura , Stefan Mundlos , Geert Mortier , Martine LeMerrer , Ralph Lachman , Deborah Krakow , Christine Hall , Valerie Cormier-Daire , Matthew L Warman
Yıl :
2011
American Journal of Medical Genetics. Part a
Yayıncı Web Sitesi
Tam Metin
Kaydet
This article is from American Journal of Medical Genetics. Part a, volume 155. Abstract Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular pathogenesis. The aim is to provide the Genetics, Pediatrics and Radiology community with a list of recognized genetic skeletal disorders that can be of help in the diagnosis of individual cases, in the delineation of novel disorders, and in building bridges between clinicians and scientists interested in skeletal biology. In the 2010 revision, 456 conditions were included and placed in 40 groups defined by molecular, biochemical, and/or radiographic criteria. Of these conditions, 316 were associated with mutations in one or more of 226 different genes, ranging from common, recurrent mutations to “private” found in single families or individuals. Thus, the Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene. The Nosology should be useful for the diagnosis of patients with genetic skeletal diseases, particularly in view of the information flood expected with the novel sequencing technologies; in the delineation of clinical entities and novel disorders, by providing an overview of established nosologic entities; and for scientists looking for the clinical correlates of genes, proteins and pathways involved in skeletal biology. © 2011 Wiley-Liss, Inc.
DOI : doi:10.1002/ajmg.a.33909
Cilt :155
ISSN :1552-4825
Sınıflandırma :
8
Ambiguous genitalia: What prenatal genetic testing is practical?
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
Margaret P. Adam , Melissa A. Parisi , Margarett Shnorhavorian , Richard E. Grady , Angela Badaru , Edith Y. Cheng , Elizabeth McCauley , Roberta A. Pagon , Patricia Y. Fechner , Linda A. Ramsdell
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.35338
9
The perceived personal control (PPC) questionnaire as an outcome of genetic counseling: Reliability and validity of the instrument
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
Arwen H. Pieterse , Margreet G.E.M. Ausems , Alexandra M. van Dulmen , Ellen M.A. Smets , Cora M. Aalfs
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.31185
10
Be careful with familial unbalanced chromosome abnormalities!1
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
A. García , L. Rodríguez , M.L. Martínezu2010Fernández , J.L. Peña Segura , E. Niebuhr
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.32383
11
New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect.
e-Kitap

e-Kitap
Open Access
Kaynak :
Internet Archive Books
Dergi:
American Journal of Medical Genetics. Part a
Yayıncı:
American Journal of Medical Genetics. Part a
Yazar(lar) :
Joseph G Gleeson , Shifteh Sattar , Mahmoud Y Issa , William B Dobyns , Sahar N Saleem , Ghada M H Abdel Salam , Maha S Zaki
Yıl :
2011
American Journal of Medical Genetics. Part a
Yayıncı Web Sitesi
Tam Metin
Kaydet
This article is from American Journal of Medical Genetics. Part a, volume 155. Abstract We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance. © 2011 Wiley Periodicals, Inc.
DOI : doi:10.1002/ajmg.a.34078
Cilt :155
ISSN :1552-4825
Sınıflandırma :
12
Atypical facial clefting in a patient with Goltz syndrome
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
Maria Leine Guion-Almeida , Elaine Sbroggio de Oliveira Rodini , Ligiane Alves Machado-Paula , Siulan Vendramini
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.30141
13
Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
Josette Lucas , Yline Capri , Sylvie Jaillard , Nathalie Le DÛ , Anneu2010Claude Tabet , Claire De Barace , Joris Andrieux , Loïc De Pontual , Jeanu2010Marc Pinard , Azzedine Aboura , Florence Demurger , Louise Devisme , Valérie Malan , Hubert Journel , Annick Toutain , Catherine Henry , Pascale Marcorelles , Marieu2010Christine De Blois , Catherine Vincentu2010Delorme , Aziza Lebbar , Laurent Pasquier , Jeanne Amiel , Laurence Perrin , Eva Pipiras , Abdelmadjid Benmansour , aïla El Khattabi , Dominique P. Germain , Marcu2010Antoine Belaudu2010Rotureau , Christèle Dubourg
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.36932
14
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
Gen Nishimura , Shahida Moosa , Virginia Fano , Janine Altmüller , Peter Nürnberg , Maria Gabriela Obregon , Bernd Wollnik , Holger Thiele
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.37823
15
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
Osman Oztekin , Jillian S. Parboosingh , Banu Guzel Nur , Francois P. Bernier , Fırat Kardelen , Ercan Mihci , Salih Kalay
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.36051
16
Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
Stefan Gröschel , Ruud Delwel , Jan Maarten Cobben , Taco Kuijpers , Claudia Erpelinck , Mathijs Sanders , Arjan Bouman , Lia Knegt
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.37451
17
Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
Gregory Bennett , Nicholas Manton , Ravi Savarirayan , Christopher P. Barnett , Eric Haan , Lynette Moore , April Crawford , Yee Khong
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.37856
18
Chromosomal‐array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case
Dergi Makalesi

Dergi Makalesi
Kaynak :
JSTOR
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
John Wiley & Sons, Inc.
Yazar(lar) :
Meral Yirmibeş Karaoğuz , Mehmet Ali Ergün , Esra Tuğ , Ferda E. Perçin , Gülsüm Kayhan
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
 Piri Tam Metin Bulucu
Kaydet
DOI : 10.1002/ajmg.a.36495
19
Spondyloenchondrodysplasia: Clinical variability in three cases
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yazar(lar) :
M ARAPOGLU , Savaş UNGUR , Beyhan Tuysuz
Konu :
Moleküler Biyoloji ve Genetik, Temel Bilimler, Dahili Tıp Bilimleri, Yaşam Bilimleri, Tıbbi Genetik, Sağlık Bilimleri, Tıp, Yaşam Bilimleri (LIFE), Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT
Yıl :
2004
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı Web Sitesi
Kaydet
Spondyloenchondrodysplasia is a very rare skeletal dysplasia in which multiple enchondromata exist in the metaphyses of the long bones with platyspondyly. We present three patients (two of them are sibs) with spondyloenchondrodysplasia. The first patient was a 10-year-old boy, who had short stature and enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly on radiography. His older sister (21-years old) had received growth hormone therapy 12 years earlier due to short stature, and her radiological findings were similar but milder than her brother. Both the sibs had normal intelligence and no calcification of the basal ganglia. The third patient was a 6-year-old boy who had short stature, mental retardation, enchondromatous-like lesions in the metaphyses of the long bones and platyspondyly. His cranial BT showed calcification of basal ganglia. The findings of the two sibs in the first family were compatible with spondyloenchondrodysplasia. The difference in clinical severity between the siblings shows the variability within the family. The third case with mental retardation and the presence of intracranial calcifications is compatible with spondyloenchondrodysplasia with basal ganglia calcification. In conclusion, we suggest that family screening and cranial imaging for the presence of intracranial calcifications should be considered in every patient with the diagnosis of spondyloenchondrodysplasia. (C) 2004 Wiley-Liss, Inc.
Anahtar Kelimeler : Moleküler Biyoloji ve Genetik, Temel Bilimler, Dahili Tıp Bilimleri, Yaşam Bilimleri, Tıbbi Genetik, Sağlık Bilimleri, Tıp, Yaşam Bilimleri (LIFE), Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT, Makale

ISSN: 0148-7299
Sınıflandırma :
20
Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: Expanding the phenotypic spectrum of Rab27A mutations in humans
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
Wiley-Liss
Yazar(lar) :
Aksu G , Kutukculer N , Genel F , Vergin C , Omowaire B
Konu :
Griscelli syndrome, Elejalde syndrome, PAID syndrome, Rab27A, MYOVA, 15q21, slac2-amelanophylin
Yıl :
2003
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet
We present an eleven-year-old female patient who was referred to us with silvery hair, hepatosplenomegaly, neutropenia-thrombocytopenia, hypogammaglobulinemia and degenerative white matter disease, with a family history of a female sibling dying at the age of five and two living male cousins, ages 10 and 11. She had been followed up for her cytopenia the last three years, and had totally recovered from a hemiplegic episode before admission. The family was of Arabic origin, and a second-degree consanguinity was reported between the parents. Microscopic analysis of her hair shafts revealed irregularly distributed small and large clumps of melanin, and skin biopsy findings were consistent with partial albinism. Bone marrow aspiration and biopsy did not detect any evidence of hemophagocytosis. Genetic analysis identified a homozygous two-base-plair deletion (51 del CT leading to S18X) in the Rab27A gene of the patient. She suffered from febrile neutropenic episodes. Her persistent cytopenia could not be corrected with immunoglobulin, thrombocyte infusions, or a short course of growth factor treatment. Splenectomy was planned due to her progressive splenic enlargement. She was also considered for bone marrow transplantation. She unfortunately died from an intracranial hemorrhage. Her clinical presentation was remarkable, mostly resembling partial albinism immunodeficiency/Elejalde syndrome due to her older age and absence of hemophagocytosis, but with molecular findings confirming Griscelli syndrome. (C) 2002 Wiley-Liss, Inc.
Anahtar Kelimeler : Griscelli syndrome, Elejalde syndrome, PAID syndrome, Rab27A, MYOVA, 15q21, slac2-amelanophylin, article
Cilt: 116A
Sayı: 4
ISSN: 0148-7299
Sınıflandırma :
21
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)
Dergi Makalesi

Dergi Makalesi
Kaynak 1:
DSpace Makaleler
Kaynak 2:
DSpace Makaleler
Dergi:
American Journal of Medical Genetics, Part A
Yayıncı:
Zonguldak Bülent Ecevit Üniversitesi
Yazar(lar) :
Zonguldak Bülent Ecevit Üniversitesi
Konu :
D-2-hydroxyglutaric acidura, Isocitrate dehydrogenase, Metaphyseal chondromatosis, Mosaicism, Somatic mutation, Whole-genome sequencing
Yıl :
2011
American Journal of Medical Genetics, Part A
Piri Tam Metin Bulucu
Kaydet
We used exome sequencing of blood DNA in four unrelated patients to identify the genetic basis of metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA), a rare entity comprising severe chondrodysplasia, organic aciduria, and variable cerebral involvement. No evidence for recessive mutations was found; instead, two patients showed mutations in IDH1 predicting p.R132H and p.R132S as apparent somatic mosaicism. Sanger sequencing confirmed the presence of the mutation in blood DNA in one patient, and in blood and saliva (but not in fibroblast) DNA in the other patient. Mutations at codon 132 of IDH1 change the enzymatic specificity of the cytoplasmic isocitrate dehydrogenase enzyme. They result in increased D-2-hydroxy-glutarate production, ?-ketoglutarate depletion, activation of HIF-1? (a key regulator of chondrocyte proliferation at the growth plate), and reduction of N-acetyl-aspartyl-glutamate level in glial cells. Thus, somatic mutations in IDH1 may explain all features of MC-HGA, including sporadic occurrence, metaphyseal disorganization, and chondromatosis, urinary excretion of D-2-hydroxy-glutaric acid, and reduced cerebral myelinization. © 2011 Wiley Periodicals, Inc.
DOI : 10.1002/ajmg.a.34325
Anahtar Kelimeler : D-2-hydroxyglutaric acidura, Isocitrate dehydrogenase, Metaphyseal chondromatosis, Mosaicism, Somatic mutation, Whole-genome sequencing, article
Cilt: 155
Sayı: 11
ISSN: 1552-4825
Sınıflandırma :
22
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yazar(lar) :
Angelika Stellzig-Eisenhauer , Yeliz Gueven , Denny Schanze , Agnes Bloch-Zupan , Martin Zenker , Felix Kunz , Hulya Kayserili , Alina Midro , Deepthi de Silva , Sriyani Basnayake , Jan Borys
Konu :
Moleküler Biyoloji ve Genetik, Temel Bilimler, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Tıp, Yaşam Bilimleri (LIFE), Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT
Yıl :
2020
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı Web Sitesi
Kaydet
Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates embryonic epithelial-mesenchymal interactions. Anecdotal reports have described abnormal orodental findings in FS, but no study has as yet addressed the orodental findings of FS systematically. We reviewed dental radiographs of 10 unrelated patients with FS of different genetic etiologies. Dental anomalies were present in all patients with FS and included hypodontia, dental crowding, medial diastema, and retained teeth. A very consistent pattern of shortened dental roots of most permanent teeth as well as altered length/width ratio with shortened dental crowns of upper incisors was also identified. These findings suggest that the FRAS1-FREM complex mediates critical mesenchymal-epithelial interactions during dental crown and root development. The orodental findings of FS reported herein represent a previously underestimated manifestation of the disorder with significant impact on orodental health for affected individuals. Integration of dentists and orthodontists into the multidisciplinary team for management of FS is therefore recommended.
Anahtar Kelimeler : Moleküler Biyoloji ve Genetik, Temel Bilimler, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Tıp, Yaşam Bilimleri (LIFE), Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT, Makale

ISSN: 1552-4825
Sınıflandırma :
23
Bilateral renal dysplasia and situs inversus totalis in an infant girl
Araştırma Makalesi

Araştırma Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
Wiley-Liss
Yazar(lar) :
Mir S , Akil I
Yıl :
2003
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet
Anahtar Kelimeler : letter
Cilt: 118A
Sayı: 1
ISSN: 0148-7299
Sınıflandırma :
24
Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome
Dergi Makalesi

Dergi Makalesi
Kaynak 1:
DSpace Makaleler
Kaynak 2:
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Sari Erkan , Bereket Abdullah , Yesilkaya Ediz , Bas Firdevs , Bundak Ruveyde , Aydin Banu Kucukemre , Darcan Sukran , Dundar Bumin , Buyukinan Muammer , Kara Cengiz , Adal Erdal , Akinci Aysehan , Atabek Mehmet Emre , Demirel Fatma , Celik Nurullah , Ozkan Behzat , Ozhan Bayram , Orbak Zerrin , Ersoy Betul , Dogan Murat , Atas Ali , Turan Serap , Goksen Damla , Tarim Omer , Yuksel Bilgin , Ercan Oya , Hatun Sukru , Simsek Enver , Okten Aysenur , Abaci Ayhan , Doneray Hakan , Ozbek Mehmet Nuri , Keskin Mehmet , Onal Hasan , Akyurek Nesibe , Bulan Kezban , Tepe Derya , Emeksiz Hamdi Cihan , Demir Korcan , Kizilay Deniz , Topaloglu Ali Kemal , Eren Erdal , Ozen Samim , Demirbilek Huseyin , Abali Saygin , Akin Leyla , Eklioglu Beray Selver , Kaba Sultan , Anik Ahmet , Bas Serpil , Unuvar Tolga , Saglam Halil , Bolu Semih , Ozgen Tolga , Dogan Durmus , Cakir Esra Deniz , Sen Yasar , Andiran Nesibe , Cizmecioglu Filiz , Evliyaoglu Olcay , Karaguzel Gulay , Pirgon Ozgur , Catli Gonul , Can Hatice Dilek , Gurbuz Fatih , Binay Cigdem , Bas Veysel Nijat , Fidanci Kursat , Gul Davut , Polat Adem , Acikel Cengizhan , Cinaz Peyami , Darendeliler Feyza
Konu :
anthropometry, karyotype, turner syndrome
Yıl :
2016
American Journal of Medical Genetics Part A
Kaydet
To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P<0.001). The mean birth length was 1.3cm shorter and mean birth weight was 0.36kg lower than that of the normal population. The mean age at diagnosis was 10.1 +/- 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 +/- 1.7, -1.4 +/- 1.5, and 0.4 +/- 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P=0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. (c) 2016 Wiley Periodicals, Inc.
Anahtar Kelimeler : anthropometry, karyotype, turner syndrome, article
Cilt: 170
Sayı: 4
ISSN: 1552-4825
25
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype
Araştırma Makalesi

Araştırma Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics, Part A
Yayıncı:
American Journal of Medical Genetics, Part A
Yazar(lar) :
S.S. Jamuar , H. Duzkale , N. Duzkale , C. Zhang , F.A. High , L. Kaban , A.E. Lin
Yıl :
2015
American Journal of Medical Genetics, Part A
Yayıncı Web Sitesi
Kaydet
Anahtar Kelimeler : letter

ISSN: 15524825
26
Türkiye'nin Doğal-Egzotik Ağaç ve Çalıları-II
Kitap Bölümü

Kitap Bölümü
Kaynak :
DSpace Makaleler
Dergi:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yazar(lar) :
Dilek ORAL
Konu :
Yaşam Bilimleri, Temel Bilimler, Bitki ve Hayvan Bilimleri, Tarım ve Çevre Bilimleri (AGE)
Yıl :
2021
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Yayıncı Web Sitesi
Kaydet
Anahtar Kelimeler : Yaşam Bilimleri, Temel Bilimler, Bitki ve Hayvan Bilimleri, Tarım ve Çevre Bilimleri (AGE), Kitapta Bölüm
Sınıflandırma :
27
Exclusion of Candidate Genes in Seven Turkish Families With Autosomal Recessive Amelogenesis Imperfecta
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yayıncı:
Wiley-Liss
Yazar(lar) :
Becerik Sema , Cogulu Dilsah , Emingil Guelnur , Han Ted , Hart P. Suzanne , Hart Thomas C.
Konu :
autosomal recessive amelogenesis imperfecta, AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, TUFT1
Yıl :
2009
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet
Amelogenesis imperfectas (AI) are a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence of a genetic etiology of AI for the seven major candidate gene loci (AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, and TUFT1). Dental and periodontal characteristics of the affected members of these families were also described. The mean scores of DMFS and dfs indices were 9.7 and 9.6, respectively. The mean PPD was 2.2 min and the percentage of the sites with plaque and BOP were 87.8% and 72.4%, respectively. The exons and intron/exon junctions of the candidate genes were sequenced and no gene mutations were identified in any individuals. These findings support the existence of an additional gene(s) that are etiologic for ARAI in these families. (C) 2009 Wiley-Liss, Inc.
Anahtar Kelimeler : autosomal recessive amelogenesis imperfecta, AMBN, AMELX, ENAM, FAM83H, KLK4, MMP20, TUFT1, article
Cilt: 149A
Sayı: 7
ISSN: 1552-4825
Sınıflandırma :
28
A further family of Stromme syndrome carrying CENPF mutation
Dergi Makalesi

Dergi Makalesi
Kaynak :
DSpace Makaleler
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Özkınay Ferda , Atik Tahir , Isik Esra , Gormez Zeliha , Sagiroglu Mahmut , Sahin Ozlem Atan , Corduk Nergul , Onay Huseyin
Konu :
centromere protein F, ciliopathy, exome, gene discovery, massively parallel sequencing, microcephaly, Stromme syndrome
Yıl :
2017
American Journal of Medical Genetics Part A
Yayıncı Web Sitesi
Kaydet
Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted. Regarding the clinical features of both affected siblings, a diagnosis of Stromme syndrome was established. Exome-sequencing of these two cases showed the homozygous mutation (c.5912_5913insA)/(p.T1974Nfs*9) in CENPF. While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CENPF was indeed underlying the reason for Stromme syndrome. This is the second case report identifying CENPF mutation as the cause of Stromme syndrome.
Anahtar Kelimeler : centromere protein F, ciliopathy, exome, gene discovery, massively parallel sequencing, microcephaly, Stromme syndrome, article
Cilt: 173
Sayı: 6
ISSN: 1552-4825
Sınıflandırma :

Yayın Yılı

Sınırla

Doküman Türü
Tümü

Veri Tabanı
Tümü

Dergi İsmi
Tümü

Disiplin
Tümü

Disipline Göre İlgililik

Alt Disiplin
Tümü

Konu
Tümü

Yayıncı
Tümü

Lisan
Tümü

X
Filtreler