Results 201 to 210 of about 313,511 (298)

Candidate Genes and Single Nucleotide Polymorphisms (SNPs) in the Study of Human Disease [PDF]

, 2001
Stephen J. Chanock
openalex   +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

Melting Curve Analysis of SNPs (McSNP ^® ): A Gel-Free and Inexpensive Approach for SNP Genotyping [PDF]

, 2001
Joshua M. Akey, Donna M. Sosnoski, Esteban J. Parra, S. Dios, K. Hiester, B. Su, Carolina Bonilla, Jin Li, Mark D. Shriver   +8 more
openalex   +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

Combined SNP parental haplotyping and intensity analysis identifies meiotic and mitotic aneuploidies and frequent segmental aneuploidies in preimplantation human embryos. [PDF]

Sci Rep
Handyside AH, Newnham L, Newnham M, Henning D, Velebny J, Pozdena J, Krmelova J, Horak J.   +7 more
europepmc   +1 more source

A SNP Resource for Human Chromosome 22: Extracting Dense Clusters of SNPs From the Genomic Sequence [PDF]

, 2001
Elisabeth Dawson, Yuan Chen, Sarah Hunt, Luc J Smink, Adrienne Hunt, Kate Rice, Simon Livingston, Suzannah Bumpstead, Richard Bruskiewich, Pak C. Sham, Rocky Ganske, Mark D. Adams, Kazuhiko Kawasaki, Nobuyoshi Shimizu, Satoshi Minoshima, Bruce A. Roe, David Bentley, Ian Dunham   +17 more
openalex   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Nitric oxide donor sodium nitroprusside serves as a source of iron supporting <i>Pseudomonas aeruginosa</i> growth and biofilm formation. [PDF]

Microbiol Spectr
Bertran I Forga X, Hong Y, Fairfull-Smith KE, Qin J, Totsika M.   +4 more
europepmc   +1 more source

genotools SNP MANAGER: A New Software for Automated High-Throughput MALDI-TOF Mass Spectrometry SNP Genotyping [PDF]

, 2001
W. Pusch, K.-O. Kraeuter, Thomas Froehlich, Yves Stalgies, Markus Kostrzewa   +4 more
openalex   +1 more source

Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somatic hit in the brain is usually presumed if a clear pathogenic germline variant is present. Here, we present
Ala'a Alsayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei, Navprabhjot Kaur, Walter Hader, Tyler Soule, Setareh Ashtiani, Grace Polanco‐Tovar, Morris Scantlebury, Hamed Rahi, Yang Cao, Jennifer A. Chan, Juan P. Appendino, Gerald Pfeffer, Ping Yee Billie Au, Karl Martin Klein   +16 more
wiley   +1 more source