Results 111 to 120 of about 640,277 (286)
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
Case Reports in Genetics, 2018 Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance.
Ivanka Dimova, Ivo Kremensky
doaj +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
EMBO Molecular Medicine, 2012 Translational read‐through‐inducing drugs (TRIDs) promote read‐through of nonsense mutations, placing them in the spotlight of current gene‐based therapeutic research.
Tobias Goldmann +7 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun +7 more
wiley +1 more source
Therapeutic Advances in Neurological Disorders, 2010 Duchenne muscular dystrophy (DMD) is the most common, lethal, X-linked genetic disease, affecting 1 in 3500 newborn males. It is caused by mutations in the DMD gene.
Vinod Malik +3 more
doaj +1 more source
Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh +5 more
wiley +1 more source
The role of the A C395 IFNGR1 mutation in determining susceptibility to intracellular infection in Malta [PDF]
, 2012 Background: The first human mycobacterial susceptibility gene was identified amongst four children on the island of Malta in 1995. All affected children were homozygous for a nonsense mutation at position 395 of the interferon gamma receptor 1 (IFNGR1 ...
Levin, Mike +6 more
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Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source