Results 231 to 240 of about 3,861,183 (367)

Jacobsen Syndrome: A Case Report With Olfactory Bulb Agenesis, Severe Endocrinopathy, and Neurodevelopmental Delay. [PDF]

Clin Case Rep
Al-Badri SG, Duhan A, Al-Taie RH, Al Gehadi MYH, Khalil I.   +4 more
europepmc   +1 more source

Erratum: A genome screen of 13 bipolar affective disorder pedigrees provides evidence for susceptibility loci on chromosome 3 as well as chromosomes 9, 13 and 19 [PDF]

, 2004
R F Badenhop, Matthew Moses, A Scimone, Philip B. Mitchell, K R Ewen-White, A Rosso, Jennifer A. Donald, L J Adams, Peter R. Schofield   +8 more
openalex   +1 more source

Cell-free fetal DNA: the new tool in fetal medicine. [PDF]

, 2014
Chitty, LS, Everett, TR
core   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Phelan-McDermid syndrome in a Chinese pediatric patient: A case report - new heterozygous mutations lead to PMS. [PDF]

Medicine (Baltimore)
Lin S, Sun X, Zhou Y, Ding Z, Jiang K, Feng J.   +5 more
europepmc   +1 more source

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel   +5 more
wiley   +1 more source

First reported <i>TRIB1</i> copy number loss in myelodysplastic syndrome (MDS) revealed by single nucleotide polymorphism array (SNP-array) with patient-matched control. [PDF]

Leuk Res Rep
Chi K, Song L.
europepmc   +1 more source

Autism spectrum disorders associated with X chromosome markers in French-Canadian males [PDF]

, 2005
J Gauthier, Ridha Joober, Marie‐Pierre Dubé, Judith St‐Onge, Anne-Marie Bonnel, D Gariépy, S. B. Laurent, Robert Najafee, Hélène Lacasse, L St-Charles, Éric Fombonne, Laurent Mottron, GA Rouleau   +12 more
openalex   +1 more source

Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family.

American Journal of Human Genetics, 2001
D. Blackwood, D. Blackwood, A. Fordyce, M. Walker, D. Clair, D. Porteous, W. Muir, W. Muir   +7 more
semanticscholar   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source