Results 231 to 240 of about 178,713 (349)

Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing. [PDF]

Int J Mol Sci
Biedziak B, Dąbrowska J, Bogdanowicz A, Karbowska K, Mostowska A.   +4 more
europepmc   +1 more source

Whole exome sequencing suggests that mutations in known glaucoma genes do not contribute to pigmentary dispersion syndrome

, 2017
Baojian Fan, Kevin Linkroum, Dan Yi Wang, E. DelBono, John Simmons Borchert, Louis R. Pasquale, Janey L. Wiggs   +6 more
openalex   +1 more source

Gastrointestinal strictures in a pediatric patient with Satoyoshi syndrome

JPGN Reports, EarlyView.
Abstract We present a novel case of gastrointestinal strictures in a young girl with Satoyoshi syndrome (SS), highlighting multi‐system features of alopecia universalis, painful muscle cramps with dystonia, aberrant growth velocity, and skeletal abnormalities.
Katherine (Tusia) Pohoreski, Gary Galante, Kiera Pajunen, Marie‐Anne Brundler, Samarjeet Bhandal, Iwona Wrobel   +5 more
wiley   +1 more source

Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases. [PDF]

BMC Pregnancy Childbirth
Liu J, He J, Tang W, Chen J, Luo Y, Li H, Li Z, Wu L.   +7 more
europepmc   +1 more source

Treading the Path with Caution: Interpreting the Whole Exome Sequencing Data for Mendelian Disorders [PDF]

Madhumita Roy Chowdhury, Neerja Gupta
openalex   +1 more source

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature [PDF]

, 2018
Katharina Schwarze, James Buchanan, Jenny C. Taylor, Sarah Wordsworth   +3 more
openalex   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes. [PDF]

Hum Genet
Marianski K, Talcott JB, Stein J, Monaco AP, Fisher SE, Bishop DVM, Newbury DF, Paracchini S.   +7 more
europepmc   +1 more source

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

Journal of Ultrasound in Medicine, EarlyView.
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du, Rong Zhu, HongJia Li, Ying Zhao, LinLin Wu, Hong Pan, YiNan Ma, XinLin Hou, JunYa Chen   +8 more
wiley   +1 more source

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies. [PDF]

Front Genet
Wu Y, Chen G, Yang F, Liu X, Qiang Y, Wu R, Liu F, Cheng W, Yuan J.   +8 more
europepmc   +1 more source