Results 231 to 240 of about 237,429 (310)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

The Role of WWOX Gene Variant in Hypospadias and 46,XY Disorders of Sexual Development. [PDF]

Reprod Sci
Denkboy Ongen Y, Tezcan-Unlu H, Unal U, Efendi-Erdem E, Cecener G, Eren E.   +5 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

GenotypeColour: a coloured way of visualising SNPs and CNVs [PDF]

, 2009
BARLATI, Sergio, MAGRI, Chiara
core  

Association Between Hemostatic Profiles and Hypertensive Disorders of Pregnancy: A Multi-Omics Mendelian Randomization Study. [PDF]

Int J Womens Health
Li Y, Long X, Zhang Y, Tu S, Luo W, Wang X, Zeng L, Ye F, Deng X, Zhang Z.   +9 more
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes. [PDF]

Mol Cytogenet
Gao T, Wei H, Zheng Y, Xiao Y, Zheng M, Hong S.   +5 more
europepmc   +1 more source

Impact of sex chromosomes and gonad type in stress susceptibility in corticostriatal brain regions. [PDF]

Proc Natl Acad Sci U S A
Barko KN, Shelton MA, Kropp DR, Pham TQ, Rainville JR, Xue X, Tseng GC, Hodes GE, Seney ML.   +8 more
europepmc   +1 more source