Results 221 to 230 of about 837,577 (343)

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

MARTin-an open-source platform for microarray analysis. [PDF]

Front Bioinform
Kreissner KO, Faller B, Talucci I, Maric HM.   +3 more
europepmc   +1 more source

An integrated approach to the extraction, storage, processing and analysis of microarray gene expression data [PDF]

, 2001
Andreas D. Baxevanis, Izabela Makałowska, Kenneth Trout, Qien Zhou, Zhengzheng Zhou, Jaime A. Stein, Edward R. Dougherty, Paul S. Meltzer, Yidong Chen, Michael Bittner, Jeffrey M. Trent   +10 more
openalex   +1 more source

Extended Growth Curves for the Wolf‐Hirschhorn Syndrome (4p‐)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wolf‐Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial ...
Amy R. U. L. Calhoun, Amanda Lortz, T. Charles Casper, John C. Carey   +3 more
wiley   +1 more source

Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications.

J Indian Assoc Pediatr Surg
Pandey H, Sharma J, Kumar S, Mohan N, Jain V, Dhua AK, Yadav DK, Dubey AK, Choudhury P, Goel P.   +9 more
europepmc   +1 more source

Chromosomal Abnormalities Detected by Chromosomal Microarray Analysis and Karyotype in Fetuses with Ultrasound Abnormalities. [PDF]

Int J Gen Med
Lan L, Luo D, Lian J, She L, Zhang B, Zhong H, Wang H, Wu H.   +7 more
europepmc   +1 more source

Microarray-Based Analysis of Early Development in Xenopus laevis

, 2001
Curtis R. Altmann, Esther Bell, Alexander Sczyrba, Jason Pun, Stefan Bekiranov, Terry Gaasterland, Ali H. Brivanlou   +6 more
openalex   +1 more source

Correspondence analysis applied to microarray data [PDF]

, 2001
Kurt Fellenberg, Nicole C. Hauser, Benedikt Brors, Albert Neutzner, Jörg D. Hoheisel, Martin Vingron   +5 more
openalex   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis. [PDF]

BMC Med Genomics
Zhang N, Huang N, Chen Y, Chen X, Zhuang J.   +4 more
europepmc   +1 more source