Results 251 to 260 of about 379,249 (335)

Genomic structural equation modeling uncovers novel risk loci for bone metabolic disorders: cross-tissue genetic mechanisms and bone-brain axis regulation. [PDF]

BMC Musculoskelet Disord
Zhou Y, Huang J, Xu L, Zhang F, Bai C, Fan F, Wang Y, Fang B, Wang T, Mu X, Li J.   +10 more
europepmc   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization. [PDF]

Mol Cytogenet
Zhang B, Zhang C, Chen P, Hao R, An L.
europepmc   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies. [PDF]

Cancers (Basel)
Elbaz Younes I, Nguyen L, Zhang L.
europepmc   +1 more source

P414: Comorbidity of two uncommon chromosomal disorders: First reported case of 49,XXXXY and Cornelia de Lange syndrome [PDF]

Carole Samango‐Sprouse, Margaret Olaya, Kara Schmidt, Teresa Sadeghin, Andrea Gropman   +4 more
openalex   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis. [PDF]

Appl Clin Genet
Wysocka U, Stępniewska J, Kozłowska M, Kucińska A, Banaś-Leżańska P, Ałaszewski W, Dudarewicz L, Kaczmarek P, Grzesiak MS, Gach A.   +9 more
europepmc   +1 more source

Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation

, 2018
Elina A. M. Hirvonen, Saara Peuhkuri, Anna Norberg, Sofie Degerman, Katariina Hannula‐Jouppi, Hannamari Välimaa, Outi Kilpivaara, Ulla Wartiovaara‐Kautto   +7 more
openalex   +2 more sources

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source