Results 181 to 190 of about 19,235 (265)

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report [PDF]

, 2017
Stefania Moia, Daniele Tessaris, Silvia Einaudi, Luisa De Sanctis, Gianni Bona, Simonetta Bellone, Flavia Prodam   +6 more
openalex   +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

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect. [PDF]

Clin Genet
Gregersen PA, Hammarsjö A, Graversen L, Brix N, Lindelöf H, Jensen UB, Farholt S, Rubak S, Bjerre J, Piticchio SG, Terkelsen T, Nishimura G, Hellfritzsch MB, Grigelioniene G.   +13 more
europepmc   +1 more source

Evaluation of endothelial activation and stress index (EASIX) formulae in patients with compound heterozygosity for hb s and β-thalassemia: Correlation with specific proteins of disease activity [PDF]

Eleni Gavriilaki, Maria Dimopoulou, Paschalis Evangelidis, Pagona Flevari, Aimilia Mantzou, Alexandra Margeli, Eleni Pergantou, Marianna Politou, Christos Poziopoulos, Ioannis Papassotiriou   +9 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

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management. [PDF]

BMC Med Genet, 2020
Ordieres-Ortega L, Galeano-Valle F, Mallén-Pérez M, Muñoz-Delgado C, Apaza-Chavez JE, Menárguez-Palanca FJ, Alvarez-Sala Walther LA, Demelo-Rodríguez P.   +7 more
europepmc   +1 more source

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease [PDF]

, 2000
Peter Lohse, Sylke Maas, P Lohse, M. Elleder, J M Kirk, G. T. N. Besley, D. Seidel, Guy T.N. Besley, Dietrich Seidel   +8 more
openalex   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

Case report: A case of severe capecitabine toxicity due to confirmed in trans compound heterozygosity of a common and rare DPYD variant. [PDF]

Front Pharmacol
de Haar-Holleman A, Cortoos PJ, Vlaeminck J, Van Landuyt P, Steurbaut S, Vaeyens F, Haufroid V.   +6 more
europepmc   +1 more source

Determination of NUDT15 variants by targeted sequencing can identify compound heterozygosity in pediatric acute lymphoblastic leukemia patients. [PDF]

Sci Rep, 2020
Yu CH, Chang YH, Wang DS, Jou ST, Lin CY, Lin KH, Lu MY, Raghav L, Chang HH, Wu KH, Chou SW, Ni YL, Lin DT, Lin SW, Chen HY, Yang YL.   +15 more
europepmc   +1 more source