L
Liat de Vries
Researcher at Tel Aviv University
Publications - 48
Citations - 1454
Liat de Vries is an academic researcher from Tel Aviv University. The author has contributed to research in topics: Precocious puberty & Type 1 diabetes. The author has an hindex of 18, co-authored 44 publications receiving 1205 citations. Previous affiliations of Liat de Vries include San Antonio River Authority.
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Journal ArticleDOI
Familial Central Precocious Puberty Suggests Autosomal Dominant Inheritance
TL;DR: The results suggest autosomal dominant transmission with incomplete, sex-dependent penetrance of familial precocious puberty, which was familial in 43 of 156 children found to have idiopathic central precociousuberty.
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Ultrasonographic and clinical parameters for early differentiation between precocious puberty and premature thelarche.
TL;DR: Pelvic ultrasound, a noninvasive, inexpensive, and reliable tool, may give the clinician a complementary indication to the GnRH test in distinguishing isolated PT from early-stage PP in girls with early breast budding.
Journal ArticleDOI
Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
Liat de Vries,Liat de Vries,Doron M. Behar,Doron M. Behar,Pola Smirin-Yosef,Irina Lagovsky,Shay Tzur,Lina Basel-Vanagaite,Lina Basel-Vanagaite +8 more
TL;DR: It is suggested that the nonsense mutation identified accounts for the POI phenotype, highlighting the importance of the synaptonemal complex and meiosis in ovarian function.
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Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man
Sarah E. Flanagan,Elisa De Franco,Hana Lango Allen,Michele Zerah,Majedah Abdul-Rasoul,Julie Edge,Helen Stewart,Elham Alamiri,Khalid Hussain,Sam Wallis,Liat de Vries,Oscar Rubio-Cabezas,Jayne A L Houghton,Emma L. Edghill,Ann-Marie Patch,Sian Ellard,Andrew T. Hattersley +16 more
TL;DR: It is shown that NKX2-2 and MNX1 are etiological genes for neonatal diabetes, thus confirming their key role in development of the human pancreas, and there being common steps critical for pancreatic development.
Journal ArticleDOI
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
Sharona Tornovsky,Ana Crane,Karen E. Cosgrove,Khalid Hussain,Judith Lavie,Ma’ayan Heyman,Yaron Nesher,Na’ama Kuchinski,Etti Ben-Shushan,Olga Shatz,Efrat Nahari,Tamara Potikha,David Zangen,Yardena Tenenbaum-Rakover,Liat de Vries,Jesús Argente,Ricardo Gracia,Heddy Landau,Alon Eliakim,Keith J. Lindley,Mark J. Dunne,Lydia Aguilar-Bryan,Benjamin Glaser +22 more
TL;DR: Fifteen hyperinsulinism of infancy patients were selected and the promoter and all coding exons and intron/exon boundaries of ABCC8 and KCNJ11 were systematically sequenced, suggesting further genetic heterogeneity is suggested in this disorder.