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1
De novo frameshift mutation inCOUP-TFII(NR2F2) in human congenital diaphragmatic hernia
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Frances A. High , Pooja Bhayani , Jay M. Wilson , Carol J. Bult , Patricia K. Donahoe , Mauro Longoni
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37830
ISSN: 1552-4825
Sayı: 9
Cilt: 170
Sayfa: 2457-2461
2
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort
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Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Andrea Merker , Luitgard Neumeyer , Niels Thomas Hertel , Giedre Grigelioniene , Outi Mäkitie , Klaus Mohnike , Lars Hagenäs
Yıl :
2018
American Journal of Medical Genetics Part A
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As growth references for achondroplasia are limited to reports from United States, Japan, Argentina, and Australia, the aim of this study was to construct growth references for height, weight, head circumference, and body mass index (BMI) from a European cohort of children with achondroplasia and to discuss the development of these anthropometric variables. A mix of cross‐sectional and longitudinal, retrospective, and prospective data from 466 children with achondroplasia and 4,375 measuring occasions were modeled with generalized additive model for location, scale and shape (GAMLSS) to sex‐specific references for ages 0 to 20 years. Loss in height position, that is, reduction in height standard deviation scores, occurred mainly during first 2 years of life while pubertal growth seemed normal if related to adult height. Adult height was 132 cm in boys and 124 cm in girls with a variability comparable to that of the general population and seems to be remarkably similar in most studies of children with achondroplasia. BMI had a syndrome‐specific development that was not comparable to BMI development in the general population. Weight and BMI might be misleading when evaluating, for example, metabolic health in achondroplasia. Head circumference reached adult head size earlier than in the general population. Increased tempo of head circumference growth necessitates thus close clinical follow‐up during first postnatal years.
DOI : 10.1002/ajmg.a.38853
ISSN: 1552-4825
Sayı: 8
Cilt: 176
Sayfa: 1723-1734
3
Fetus with two identical reciprocal translocations: Description of a rare complication of consanguinity
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Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Danielle Martinet , Yvan Vial , Francine Thonney , Jacques S. Beckmann , Kathleen Meagher-Villemure , Sheila Unger
Konu :
Genetics(clinical), Genetics
Yıl :
2006
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.31150
ISSN: 1552-4825
Sayı: 7
Cilt: 140A
Sayfa: 769-774
4
Reply to Bernard et al. “Re: Miles and Takahashi Paper on RhIg and Autism”
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Judith H. Miles , T. Nicole Takahashi
Konu :
Genetics(clinical), Genetics
Yıl :
2008
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.32063
ISSN: 1552-4825
Sayı: 3
Cilt: 146A
Sayfa: 407-407
Sınıflandırma :
5
Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Aravindhan Veerapandiyan , Omar A. Abdul-Rahman , Margaret P. Adam , Michael J. Lyons , Melanie Manning , Karlene Coleman , Lisa Kobrynski , Deeksha Taneja , Kelly Schoch , Holly H. Zimmerman , Vandana Shashi
Konu :
Genetics(clinical), Genetics
Yıl :
2011
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.34226
ISSN: 1552-4825
Sayı: 9
Cilt: 155
Sayfa: 2186-2195
6
Caregivers evaluate independence in individuals with Down syndrome
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Stephanie L. Santoro , James Hendrix , Nicole White , Priya Chandan
Yıl :
2022
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.62680
ISSN: 1552-4825
7
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Luisa Ronzoni , Angela Peron , Vera Bianchi , Marco Baccarin , Silvana Guerneri , Rosamaria Silipigni , Faustina Lalatta , Maria Francesca Bedeschi
Konu :
Genetics(clinical), Genetics
Yıl :
2015
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37063
ISSN: 1552-4825
Sayı: 7
Cilt: 167
Sayfa: 1551-1559
8
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Sara Chadwick Reichert , Kristin Zelley , Kim E. Nichols , Moriah Eberhard , Elaine H. Zackai , Juan Martinez-Poyer
Konu :
Genetics(clinical), Genetics
Yıl :
2015
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37013
ISSN: 1552-4825
Sayı: 4
Cilt: 167
Sayfa: 862-865
9
0
Dergi Sayısı

Dergi Sayısı
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yıl :
2022
American Journal of Medical Genetics Part A
Kaydet Alıntıla
DOI : 10.1002/ajmg.a.v188.3
ISSN: 1552-4825
Sayı: 3
Cilt: 188
10
Novel FOXP1 pathogenic variants in two Indian subjects with syndromic intellectual disability
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Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Amita Moirangthem , Shubha R. Phadke
Konu :
Genetics(clinical), Genetics
Yıl :
2021
American Journal of Medical Genetics Part A
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We describe two unrelated Indian boys with Mental retardation with language impairment with or without autistic features (OMIM#613670). Novel pathogenic variants c. 593_599 delins AGAAG and c.1556T>C in FOXP1 were identified in Patients 1 and 2, respectively by exome sequencing. The patients shared the cardinal features of significant language impairment, prominent forehead, downslanted palpebral fissures, frontal upsweep of hair, and behavioral abnormalities. Camptodactyly (with pterygia in Patient 2) was an additional feature noted in our study. The phenotype was consistent with previous reports of patients with monogenic defects in FOXP1. The facial features overlap with Sotos syndrome. However, presence of frontal upsweep of hair is a good pointer toward FOXP1 related syndromic intellectual disability.
DOI : 10.1002/ajmg.a.62083
ISSN: 1552-4825
Sayı: 4
Cilt: 185
Sayfa: 1324-1327
11
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Khalil Al Tawil , Adnan Shataiwi , Angham Mutair , Wafa Eyaid , Saif Al Saif
Konu :
Genetics(clinical), Genetics
Yıl :
2005
American Journal of Medical Genetics Part A
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Kaydet Alıntıla
DOI : 10.1002/ajmg.a.30666
ISSN: 1552-4825
Sayı: 2
Cilt: 135A
Sayfa: 200-201
12
Long-term survival in TARP syndrome and confirmation ofRBM10as the disease-causing gene
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Karen W. Gripp , Elizabeth Hopkins , Jennifer J. Johnston , Caitlin Krause , William B. Dobyns , Leslie G. Biesecker
Yıl :
2011
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.34190
ISSN: 1552-4825
Sayı: 10
Cilt: 155
Sayfa: 2516-2520
13
Table of Contents, Volume 173A, Number 10, October 2017
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Dergi Makalesi
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Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yıl :
2017
American Journal of Medical Genetics Part A
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Kaydet Alıntıla
DOI : 10.1002/ajmg.a.37920
ISSN: 1552-4825
Sayı: 10
Cilt: 173
Sayfa: 2567-2571
14
Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Roberta L. Dutra , Flavia B. Piazzon , Évelin A. Zanardo , Thais Virginia Moura Machado Costa , Marília M. Montenegro , Gil M. Novo-Filho , Alexandre T. Dias , Amom M. Nascimento , Chong Ae Kim , Leslie D. Kulikowski
Konu :
Genetics(clinical), Genetics
Yıl :
2015
American Journal of Medical Genetics Part A
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Kaydet Alıntıla
DOI : 10.1002/ajmg.a.37360
ISSN: 1552-4825
Sayı: 12
Cilt: 167
Sayfa: 3197-3203
15
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Lois J. Starr , Dorothy K. Grange , Jeffrey W. Delaney , Anji T. Yetman , James M. Hammel , Jennifer N. Sanmann , Deborah A. Perry , G. Bradley Schaefer , Ann Haskins Olney
Konu :
Genetics(clinical), Genetics
Yıl :
2015
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37273
ISSN: 1552-4825
Sayı: 12
Cilt: 167
Sayfa: 2893-2901
16
A novel missense mutation ofTNNI2in a Chinese family cause distal arthrogryposis type 1
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Bo Wang , Zhaojing Zheng , Zhigang Wang , Xiaoqing Zhang , Haiou Yang , Haiqing Cai , Qihua Fu
Yıl :
2015
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37391
ISSN: 1552-4825
Sayı: 1
Cilt: 170
Sayfa: 135-141
17
The burden of rare diseases
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Carlos R. Ferreira
Konu :
Genetics(clinical), Genetics
Yıl :
2019
American Journal of Medical Genetics Part A
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The subject of rare disease numbers is rife with misconceptions, not just in websites and other layman's literature, but also in the medical literature. Various websites mention numbers that are not validated by any solid data, while in turn the medical literature cites the aforementioned websites as sources, thus perpetuating a number of myths about rare diseases and their burden. We review the existing literature on rare disease numbers, in an attempt to demystify the subject. Specifically, we summarize data pertaining to: (a) known number and cumulative prevalence of rare diseases; (b) rare disease‐associated mortality; (c) rare disease‐associated morbidity, including numbers on health care services related to rare diseases; and (d) orphan drug numbers.
DOI : 10.1002/ajmg.a.61124
ISSN: 1552-4825
Sayı: 6
Cilt: 179
Sayfa: 885-892
18
In this issue
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Konu :
Genetics(clinical), Genetics
Yıl :
2015
American Journal of Medical Genetics Part A
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Kaydet Alıntıla
DOI : 10.1002/ajmg.a.37508
ISSN: 1552-4825
Sayı: 1
Cilt: 170
Sayfa: 10-10
19
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Sarah L. Dugan , Emanuele Panza , Amanda Openshaw , Lorenzo D. Botto , Jose A. Camacho , Reha M. Toydemir
Konu :
Genetics(clinical), Genetics
Yıl :
2018
American Journal of Medical Genetics Part A
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Kaydet Alıntıla
Interstitial deletions of chromosome 9q31 are very rare. The deletions in most reported patients have been detected by conventional cytogenetics, with reported breakpoints ranging between 9q21 and 9q34. Therefore, an accurate description of a “9q31 deletion syndrome” could not be established. However, based on microarray studies, a small region of overlap has recently been proposed.
DOI : 10.1002/ajmg.a.40664
ISSN: 1552-4825
Sayı: 12
Cilt: 176
Sayfa: 2901-2906
20
Modeling age-specific facial development in Williams-Beuren-, Noonan-, and 22q11.2 deletion syndromes in cohorts of Czech patients aged 3-18 years: A cross-sectional three-dimensional geometric morphometry analysis of their facial gestalt
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Martina Čaplovičová , Veronika Moslerová , Ján Dupej , Milan Macek , Dana Zemková , Eva Hoffmannová , Markéta Havlovicová , Jana Velemínská
Yıl :
2018
American Journal of Medical Genetics Part A
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Three‐dimensional (3D) virtual facial models facilitate genotype–phenotype correlations and diagnostics in clinical dysmorphology. Within cross‐sectional analysis of both genders we evaluated facial features in representative cohorts of Czech patients with Williams–Beuren‐(WBS; 12 cases), Noonan‐(NS; 14), and 22q11.2 deletion syndromes (22q11.2DS; 20) and compared their age‐related developmental trajectories to 21 age, sex and ethnically matched controls in 3–18 years of age. Using geometric morphometry statistically significant differences in facial morphology were found in all cases compared to controls. The dysmorphic features observed in WBS were specific and manifested in majority of cases. During ontogenesis, dysmorphic features associated with increased facial convexity become more pronounced whereas other typical features remained relatively stable. Dysmorphic features observed in NS cases were mostly apparent during childhood and gradually diminished with age. Facial development had a similar progress as in controls, while there has been increased growth of patients’ nose and chin in adulthood. Facial characteristics observed in 22q11.2DS, except for hypoplastic alae nasi, did not correspond with the standard description of its facial phenotype because of marked facial heterogeneity of this clinical entity. Because of the sensitivity of 3D facial morphometry we were able to reach statistical significance even in smaller retrospective patient cohorts, which proves its clinical utility within the routine setting.
DOI : 10.1002/ajmg.a.40659
ISSN: 1552-4825
Sayı: 12
Cilt: 176
Sayfa: 2604-2613
21
ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Mariella T. Simon , Shaya S. Eftekharian , Sacha Ferdinandusse , Sha Tang , Take Naseri , Muagututi'a Sefuiva Reupena , Stephen T. McGarvey , Ryan L. Minster , Daniel E. Weeks , Daniel D. Nguyen , Sansan Lee , Katarzyna A. Ellsworth , Frédéric M. Vaz , David Dimmock , James Pitt , Jose E. Abdenur
Konu :
Genetics(clinical), Genetics
Yıl :
2020
American Journal of Medical Genetics Part A
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Mutations in the short‐chain enoyl‐CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present with developmental delay, regression, dystonia, feeding difficulties, and abnormal MRI with bilateral basal ganglia involvement. We present clinical, biochemical, molecular, and functional data for four affected patients from two unrelated families of Samoan descent with identical novel compound heterozygous mutations. Family 1 has three affected boys while Family 2 has an affected daughter, all with clinical and MRI findings of Leigh syndrome and intermittent episodes of acidosis and ketosis. WES identified a single heterozygous variant in ECHS1 at position c.832G > A (p.Ala278Thr). However, western blot revealed significantly reduced ECHS1 protein for all affected family members. Decreased SCEH activity in fibroblasts and a mild increase in marker metabolites in urine further supported ECHS1 as the underlying gene defect. Additional investigations at the DNA (aCGH, WGS) and RNA (qPCR, RT‐PCR, RNA‐Seq, RNA‐Array) level identified a silent, common variant at position c.489G > A (p.Pro163=) as the second mutation. This substitution, present at high frequency in the Samoan population, is associated with decreased levels of normally spliced mRNA. To our understanding, this is the first report of a novel, hypomorphic allele c.489G > A (p.Pro163=), associated with SCEH deficiency.
DOI : 10.1002/ajmg.a.61936
ISSN: 1552-4825
Sayı: 1
Cilt: 185
Sayfa: 157-167
22
Terminal 14q32.33 deletion: Genotype–phenotype correlation
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
M-L. Maurin , S. Brisset , M. Le Lorc'h , V. Poncet , P. Trioche , A. Aboura , P. Labrune , G. Tachdjian
Konu :
Genetics(clinical), Genetics
Yıl :
2006
American Journal of Medical Genetics Part A
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We report on a female infant presenting with psychomotor retardation and facial dysmorphism. Cytogenetic studies showed an abnormal chromosome 14 with ectopic NOR sequences at the extremity of the long arm with a terminal 14q32.33 deletion. Review of the eight cases with pure terminal 14q32.3 deletions described to date documented that our observation is the smallest terminal 14q deletion ever reported. Thus, genotype–phenotype correlation allows us to delimit the critical region for mental retardation, hypotonia, epi‐telecanthus, short bulbous nose, long philtrum, thin upper lip, and small mouth observed in 14 qter deletions to the subtelomeric 1.6 Mb of chromosome 14. © 2006 Wiley‐Liss, Inc.
DOI : 10.1002/ajmg.a.31438
ISSN: 1552-4825
Sayı: 21
Cilt: 140A
Sayfa: 2324-2329
Sınıflandırma :
23
Cautious approach to genome editing urged
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yıl :
2017
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.38510
ISSN: 1552-4825
Sayı: 11
Cilt: 173
Sayfa: 2857-2858
24
Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Françoise Devillard , Vincent Guinchat , Daniel Moreno-De-Luca , Anne-Claude Tabet , Nicolas Gruchy , Pascale Guillem , Marie-Ange Nguyen Morel , Nathalie Leporrier , Marion Leboyer , Pierre-Simon Jouk , James Lespinasse , Catalina Betancur
Konu :
Genetics(clinical), Genetics
Yıl :
2010
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.33601
ISSN: 1552-4825
Sayı: 9
Cilt: 152A
Sayfa: 2346-2354
25
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype ofITPR1-related spinocerebellar ataxia's
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Tessa van Dijk , Peter Barth , Liesbeth Reneman , Bart Appelhof , Frank Baas , Bwee Tien Poll-The
Konu :
Genetics(clinical), Genetics
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.37962
ISSN: 1552-4825
Sayı: 1
Cilt: 173
Sayfa: 207-212
26
A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q
Dergi Makalesi

Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Lulu Xie , Xianqiong Luo , Jie Yang , Junping Wang , Chuan Nie , Zhu Wang
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.38009
ISSN: 1552-4825
Sayı: 3
Cilt: 173
Sayfa: 721-726
27
Subclinical dysphagia in persons with Prader-Willi syndrome
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Dergi Makalesi
Kaynak :
Wiley Online Library
Dergi:
American Journal of Medical Genetics Part A
Yazar(lar) :
Roxann Diez Gross , Ronit Gisser , Gregory Cherpes , Katie Hartman , Rishi Maheshwary
Yıl :
2016
American Journal of Medical Genetics Part A
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DOI : 10.1002/ajmg.a.38015
ISSN: 1552-4825
Sayı: 2
Cilt: 173
Sayfa: 384-394

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