Literature DB >> 30733655

The Right Gene, Expressed at the Wrong Time, or at the Wrong Place.

Martin Poot.   

Abstract

Year:  2018        PMID: 30733655      PMCID: PMC6362855          DOI: 10.1159/000492608

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN: 1661-8769


× No keyword cloud information.
  21 in total

1.  AliBaba2: context specific identification of transcription factor binding sites.

Authors:  Niels Grabe
Journal:  In Silico Biol       Date:  2002

2.  MatInspector and beyond: promoter analysis based on transcription factor binding sites.

Authors:  K Cartharius; K Frech; K Grote; B Klocke; M Haltmeier; A Klingenhoff; M Frisch; M Bayerlein; T Werner
Journal:  Bioinformatics       Date:  2005-04-28       Impact factor: 6.937

3.  Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

Authors:  Beatriz Paumard-Hernández; Julia Berges-Soria; Eva Barroso; Carlos I Rivera-Pedroza; Virginia Pérez-Carrizosa; Sara Benito-Sanz; Eva López-Messa; Fernando Santos; Ignacio I García-Recuero; Ana Romance; Juliana María Ballesta-Martínez; Vanesa López-González; Ángel Campos-Barros; Jaime Cruz; Encarna Guillén-Navarro; Jaime Sánchez Del Pozo; Pablo Lapunzina; Sixto García-Miñaur; Karen E Heath
Journal:  Eur J Hum Genet       Date:  2014-10-01       Impact factor: 4.246

4.  Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.

Authors:  Eva Klopocki; Silke Lohan; Francesco Brancati; Randi Koll; Anja Brehm; Petra Seemann; Katarina Dathe; Sigmar Stricker; Jochen Hecht; Kristin Bosse; Regina C Betz; Francesco Giuseppe Garaci; Bruno Dallapiccola; Mahim Jain; Maximilian Muenke; Vivian C W Ng; Wilson Chan; Danny Chan; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2010-12-17       Impact factor: 11.025

5.  A large duplication involving the IHH locus mimics acrocallosal syndrome.

Authors:  Memnune Yuksel-Apak; Nina Bögershausen; Barbara Pawlik; Yun Li; Selcuk Apak; Oya Uyguner; Esther Milz; Gudrun Nürnberg; Birsen Karaman; Ayan Gülgören; Karl-Heinz Grzeschik; Peter Nürnberg; Hülya Kayserili; Bernd Wollnik
Journal:  Eur J Hum Genet       Date:  2012-01-11       Impact factor: 4.246

6.  Indian hedgehog positively regulates calvarial ossification and modulates bone morphogenetic protein signaling.

Authors:  Kelly Lenton; Aaron W James; Alina Manu; Samantha A Brugmann; Daniel Birker; Emily R Nelson; Philipp Leucht; Jill A Helms; Michael T Longaker
Journal:  Genesis       Date:  2011-08-24       Impact factor: 2.487

7.  The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.

Authors:  Lut Van Laer; Els Van Eyken; Erik Fransen; Jeroen R Huyghe; Vedat Topsakal; Jan-Jaap Hendrickx; Samuli Hannula; Elina Mäki-Torkko; Mona Jensen; Kelly Demeester; Manuela Baur; Amanda Bonaconsa; Manuela Mazzoli; Angeles Espeso; Katia Verbruggen; Joke Huyghe; Patrick Huygen; Sylvia Kunst; Minna Manninen; Annelies Konings; Amalia N Diaz-Lacava; Michael Steffens; Thomas F Wienker; Ilmari Pyykkö; Cor W R J Cremers; Hannie Kremer; Ingeborg Dhooge; Dafydd Stephens; Eva Orzan; Markus Pfister; Michael Bille; Agnete Parving; Martti Sorri; Paul H Van de Heyning; Guy Van Camp
Journal:  Hum Mol Genet       Date:  2007-10-06       Impact factor: 6.150

8.  Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.

Authors:  Ye-Ri Kim; Min-A Kim; Borum Sagong; Seung-Hyun Bae; Hyo-Jeong Lee; Hyung-Jong Kim; Jae Young Choi; Kyu-Yup Lee; Un-Kyung Kim
Journal:  PLoS One       Date:  2015-03-17       Impact factor: 3.240

9.  Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.

Authors:  Gabriela Petrof; Arti Nanda; Jake Howden; Takuya Takeichi; James R McMillan; Sophia Aristodemou; Linda Ozoemena; Lu Liu; Andrew P South; Celine Pourreyron; Dimitra Dafou; Laura E Proudfoot; Hejab Al-Ajmi; Masashi Akiyama; W H Irwin McLean; Michael A Simpson; Maddy Parsons; John A McGrath
Journal:  Am J Hum Genet       Date:  2014-08-21       Impact factor: 11.025

10.  Confirmation of GRHL2 as the gene for the DFNA28 locus.

Authors:  Barbara Vona; Indrajit Nanda; Cordula Neuner; Tobias Müller; Thomas Haaf
Journal:  Am J Med Genet A       Date:  2013-06-27       Impact factor: 2.802

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.