American Journal of Medical Genetics Part A
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#1Dalia Abualsaud (UCD: University College Dublin)H-Index: 1
#2Mais HashemH-Index: 27
Last. Fowzan S. AlkurayaH-Index: 70
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Disorders of sex development (DSD) are congenital conditions with atypical development of chromosomal, gonadal, or anatomical sex. The estimated incidence ranges from 1 in 4,500-5,500 for strictly defined "ambiguous genitalia" to 1 in 300 or higher when a broader definition is implemented. In this study, we aim to define DSD phenotypes encountered in a large heterogeneous cohort of molecularly characterized Mendelian disorders in a single center. Data were retrieved for patients with documented ...
2 CitationsSource
#1Kaylee B. Park (UW: University of Washington)H-Index: 1
#2Teresa Chapman (UW: University of Washington)H-Index: 13
Last. William B. Dobyns (UMN: University of Minnesota)H-Index: 114
view all 18 authors...
Twins have an increased risk for congenital malformations and disruptions, including defects in brain morphogenesis. We analyzed data on brain imaging, zygosity, sex, and fetal demise in 56 proband twins and 7 less affected co-twins with abnormal brain imaging and compared them to population-based data and to a literature series. We separated our series into malformations of cortical development (MCD, N = 39), cerebellar malformations without MCD (N = 13), and brain disruptions (N = 11). The MCD...
4 CitationsSource
#1Breann Reinsch (Keck Graduate Institute of Applied Life Sciences)
#2Katheryn Grand (Cedars-Sinai Medical Center)H-Index: 2
Last. Pedro A. Sanchez-Lara (UCLA: University of California, Los Angeles)H-Index: 23
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RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old male with a history of lower leg pain and concern for an unspecified form of multiple epiphyseal dysplasia (MED). Exome sequencing revealed a de novo heterozygous RPL13 c.477+1G>A (IVS4+1G>A) pathogenic variant. This is the first identified case of an in...
1 CitationsSource
Cantu syndrome (CS) is an extremely rare autosomal dominant hereditary disease characterized by congenital hypertrichosis, distinct coarse facial features, cardiac defects, and other abnormalities in the skeletal and neurological systems. At present, cases with pathognomonic clinical manifestations are increasingly confirmed by genetic analysis. Two causative genes for CS are the well-known ABCC9 and the more rarely reported KCNJ8. Here, we report three Vietnamese children with CS, confirmed thr...
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#1Kosei Hasegawa (Okayama University)H-Index: 10
#2Hiroyuki Tanaka (Okayama University)H-Index: 43
Last. Hirokazu Tsukahara (Okayama University)H-Index: 39
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Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleton-Merten (S-M) syndrome, which accompanies acro-osteolysis, loss of permanent teeth, and aortic calcification, as well as causing Aicardi-Goutieres (A-G) syndrome, which shows progressive encephalopathy, spastic paraplegia, and calcification of basal ganglia. Recently, patients with overlapping syndromes presenting with features of S-M syndrome and A-G syndrome were reported. However, progression ...
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#1Małgorzata Rydzanicz (Medical University of Warsaw)H-Index: 23
Last. Rafał Płoski (Medical University of Warsaw)H-Index: 47
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Developmental and epileptic encephalopathies (DEE) are a heterogenous group of conditions characterized by the co-occurrence of epilepsy and intellectual/developmental disability. Despite several known DEE-related genes, including these encoding ion channels, still many cases remain without molecular diagnosis. Here, we present a 2-year-old girl with severe DEE in whom whole exome sequencing revealed de novo p.(Val471Leu) variant in the KCNC2 encoding Kv3.2, a voltage-gated potassium channel. To...
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#1Dina Marek-Yagel (Sheba Medical Center)H-Index: 14
#2Aviva Eliyahu (Sheba Medical Center)H-Index: 1
Last. Yair Anikster (Sheba Medical Center)H-Index: 48
view all 11 authors...
Maroteaux-Lamy syndrome (MPS-VI) is a rare autosomal-recessive disorder with a wide spectrum of clinical manifestations, ranging from an attenuated to a rapidly progressive disease. It is caused by variants in ARSB, which encodes the lysosomal arylsulfatase B (ARSB) enzyme, part of the degradation process of glycosaminoglycans in lysosomes. Over 220 variants have been reported so far, with a majority of missense variants. We hereby report two siblings of Bedouin origin with a diagnosis of MPS-VI...
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#1Emily Mira Warshauer (University of Colorado Denver)
Last. J. Jackow ('KCL': King's College London)H-Index: 10
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Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis caused by mutations in the gene coding for type VII collagen (COL7A1). More than 800 different pathogenic mutations in COL7A1 have been described to date; however, the ancestral origins of many of these mutations have not been precisely identified. In this study, 32 RDEB patient samples from the Southwestern United States, Mexico, Chile, and Colombia carrying common mutations in the COL7A1 gene were investigated to determ...
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#1Schaida Schirwani (University of Sheffield)H-Index: 5
#2Shadi AlbabaH-Index: 2
Last. Natalie Hauser (Inova Health System)H-Index: 8
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The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome, as well as a review of all previously published individuals. We have reviewed the rather limited functional characterization of pathogenic variants in ASXL3...
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#1Shira G. Ziegler (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 5
#2Gretchen MacCarrick (JHUSOM: Johns Hopkins University School of Medicine)H-Index: 5
Last. Harry C. Dietz (HHMI: Howard Hughes Medical Institute)H-Index: 108
view all 3 authors...
Tremendous progress has been made in understanding the etiology, pathogenesis, and treatment of inherited vascular connective tissue disorders. While new insights regarding disease etiology and pathogenesis have informed patient counseling and care, there are numerous obstacles that need to be overcome in order to achieve the full promise of precision medicine. In this review, these issues will be discussed in the context of Marfan syndrome and Loeys-Dietz syndrome, with additional emphasis on t...
1 CitationsSource
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