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American Journal of Medical Genetics Part A
IF
2.20
Papers
8786
Papers 8925
1 page of 893 pages (8,925 results)
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#1Yirou Wang (SJTU: Shanghai Jiao Tong University)H-Index: 1
#2Niu Li (SJTU: Shanghai Jiao Tong University)H-Index: 4
Last. Olaf A. Bodamer (Harvard University)H-Index: 35
view all 12 authors...
Kabuki syndrome (KS) is a rare disorder of transcriptional regulation with a complex phenotype that includes cranio-facial dysmorphism, intellectual disability, hypotonia, failure to thrive, short stature, and cardiac and renal anomalies. Heterozygous, de novo dominant mutations in either KMT2D or KDM6A underlie KS. Limited information is available about the phenotypic spectrum of KS in China. Fourteen Chinese patients with genetically confirmed KS were evaluated in addition to 11 Chinese patien...
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#1Keren Machol (BCM: Baylor College of Medicine)H-Index: 3
#2Trevor Dalton Hadley (BCM: Baylor College of Medicine)
Last. Cathleen Raggio (BCM: Baylor College of Medicine)
view all 22 authors...
Hearing loss (HL) is an extra-skeletal manifestation of the connective tissue disorder osteogenesis imperfecta (OI). Systematic evaluation of the prevalence and characteristics of HL in COL1A1/COL1A2-related OI will contribute to a better clinical management of individuals with OI. We collected and analyzed pure-tone audiometry data from 312 individuals with OI who were enrolled in the Linked Clinical Research Centers and the Brittle Bone Disorders Consortium. The prevalence, type, and severity ...
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#1Taisuke Sato (Jikei University School of Medicine)H-Index: 1
#2Takashi Kojima (Hokkaido University)H-Index: 7
Last. Takahiro Yamada (Kyoto University)H-Index: 21
view all 13 authors...
We present two unrelated Japanese pedigrees with achondrogenesis type 1b (ACG1B), characterized by prenatally lethal fetal hydrops and severe micromelia. The affected members in these pedigrees carried a common homozygous missense point mutation in solute carrier family 26 member 2 (SLC26A2), a gene associated with ACG1B (NM_000112:c.1987G>A). This loss-of-function point mutation causes substitution of glycine 663 with arginine in a highly conserved loop domain of SLC26A2. Interestingly, only a ...
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#1Gabrielle Lemire (UdeM: Université de Montréal)H-Index: 1
#2Eliane Beauregard-Lacroix (UdeM: Université de Montréal)H-Index: 2
Last. M. Delrue (UdeM: Université de Montréal)H-Index: 1
view all 11 authors...
Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte-Justine's prenatal clinic visits, postmortem fetal skeletal surveys, and medical records. Cases with neural tube defects were excluded. Sixty-six fetuses w...
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#1Maham Sewani (Boston Children's Hospital)
#2Kimberly Margaret Nugent (BCM: Baylor College of Medicine)H-Index: 3
Last. Daryl A. Scott (BCM: Baylor College of Medicine)H-Index: 36
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The non-POU domain containing, octamer-binding gene, NONO, is located on chromosome Xq13.1 and encodes a member of a small family of RNA and DNA binding proteins that perform a variety of tasks involved in RNA synthesis, transcriptional regulation and DNA repair. Hemizygous loss-of-function variants in NONO have been shown to cause mental retardation, X-linked, syndromic 34 in males. Features of this disorder can include a range of neurodevelopmental phenotypes, left ventricular noncompaction (L...
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#1Periyasamy Radhakrishnan (Manipal University)H-Index: 1
#2Anju Shukla (Manipal University)H-Index: 12
Last. Shalini S. Nayak (Manipal University)H-Index: 4
view all 4 authors...
Fetal akinesia deformation sequence (FADS) is a clinically and genetically heterogeneous condition. Pathogenic variants in DOK7 are known to cause myasthenic syndrome, congenital, 10 (MIM#254300) and, rarely (reported in a single family) lethal FADS. Herein, we describe a biallelic variant c.1263dupC in DOK7, known to cause congenital myasthenic syndrome 10, causing lethal FADS in a consanguineous family. The present report illustrates wide phenotypic variability caused by biallelic pathogenic v...
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#1Alyssa L. Ritter (UPenn: University of Pennsylvania)H-Index: 3
#2Petra Werner (UPenn: University of Pennsylvania)H-Index: 11
Last. Elizabeth Goldmuntz (UPenn: University of Pennsylvania)H-Index: 46
view all 9 authors...
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#1Angela Peron (University of Milan)H-Index: 9
#2Maria IasconeH-Index: 9
Last. Aglaia Vignoli (University of Milan)H-Index: 19
view all 7 authors...
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#1Brooke Willis (HKU: University of Hong Kong)
#2Mianne Lee (HKU: University of Hong Kong)
Last. Brian H.Y. Chung (HKU: University of Hong Kong)H-Index: 24
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Top fields of study
Endocrinology
Dominance (genetics)
Mutation
Genetics
Biology