Results 181 to 190 of about 118,150 (263)

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +1 more source

Whole exome sequencing

, 2014
Bou de Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
openaire   +1 more source

Delayed diagnosis of 3β‐HSD7 deficiency in adolescence: Two case reports and review of the literature

JPGN Reports, EarlyView.
ABSTRACT Congenital bile acid synthesis defects (BASD), the most common of which is 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase oxidoreductase (3β‐HSD7) deficiency, are a rare cause of fat‐soluble vitamin malabsorption. We describe a 14‐year‐old girl who presented at 14 months with a left distal femur fracture and failure to thrive.
Samantha Pendleton, Mojdeh Mostafavi, Jamie Mathew, Kayla Ganzburg, Barry Hirsch, Nadia Ovchinsky, Wael Sayej   +6 more
wiley   +1 more source

A practical framework for predicting splicing single nucleotide variants in exome sequencing. [PDF]

NAR Genom Bioinform
Utsuno Y, Hamanaka K, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Mizuguchi T, Matsumoto N.   +9 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

The Utility of Whole Exome Sequencing in Fetuses With Isolated Increased Nuchal Translucency. [PDF]

Mol Genet Genomic Med
Wang H, Luo C, Geng Q, Xu X, Liu Y.
europepmc   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Role of Genes in Dens Invaginatus: A Whole Exome Sequencing Study. [PDF]

Int J Clin Pediatr Dent
Grace M, Aarthi J, Elangovan A, Chenchugopal M, Gopalakrishnan S.   +4 more
europepmc   +1 more source