Results 141 to 150 of about 8,531 (188)

Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies. [PDF]

J Med Genet
Graham SA, McCabe A, Harrison V, Castleman J, Doyle S, Allen S.   +5 more
europepmc   +1 more source

Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature. [PDF]

J Med Case Rep
Wang B, Hua C, Liu Q, Cai D.
europepmc   +1 more source

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling. [PDF]

Hum Reprod
Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok MJ, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel CTRM, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders CEM, Paulussen ADC.   +19 more
europepmc   +1 more source

Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo <i>TRIO</i> Variant in Dizygotic Twins. [PDF]

Mol Syndromol
Bouchahta H, Sahli M, Amllal N, Ouhenach M, Sbabou L, Sefiani A.   +5 more
europepmc   +1 more source

<i>PIK3CA</i>-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report. [PDF]

Mol Syndromol
Acikgoz NB, Yildiz D, Urel-Demir G, Utine GE, Simsek-Kiper PO.   +4 more
europepmc   +1 more source

Genetics of familial acromegaly and pituitary gigantism.

J Clin Endocrinol Metab
De Sousa SMC, Daly AF.
europepmc   +1 more source

Constitutive, Mosaic Expression of TIE2 p.L914F During Mouse Development Causes Venous Malformation. [PDF]

FASEB J
Bischoff LJ, Sherpa C, Schrenk S, Boscolo E.   +3 more
europepmc   +1 more source

Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA. [PDF]

EBioMedicine
Bennett JJ, Laver TW, Männistö JME, Houghton JAL, De Franco E, Kalyon O, Wright S, Johnson AM, De Leon DD, Globa E, Kummer S, Banerjee I, Dastamani A, International Congenital Hyperinsulinism Consortium, Wakeling MN, Johnson MB, Flanagan SE.   +16 more
europepmc   +1 more source

Case - Genetic mosaicism of TSC2 gene in a patient with multifocal renal epithelioid angiomyolipomas. [PDF]

Can Urol Assoc J
Rathi N, Blachman-Braun R, Millan B, Vocke CD, Ricketts CJ, Gautam R, Reynolds K, Merino MJ, Linehan WM, Gurram S.   +9 more
europepmc   +1 more source