Inventaire - 友達とコミュニティはあなたのベストな図書館です - Inventaire

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

著者

Hilde Van Esch

Alejandro Sifrim

Martin Breuss

David Keays

Joris R Vermeesch

この作品が含まれる作品: American Journal of Human Genetics

出版日: 2015-12-01

言語: 英語

Cites articles 34

Date

タイトル

著者

2015-04-01

Dynamic instability 30 years later: complexities in microtubule growth and catastrophe
2014-01-01

Microtubules and neurodevelopmental disease: the movers and the makers

David Keays, Martin Breuss
2014-05-15

TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons

Jenny M. Gunnersen, Martin Breuss, Mark Habgood, Julian Ik-Tsen Heng
2014-04-01

MutationTaster2: mutation prediction for the deep-sequencing age.

David N. Cooper, Dominik Seelow
2013-08-24

In vivo modeling of the morbid human genome using Danio rerio

Christelle Golzio
2013-06-26

The microtubule end-binding protein EB2 is a central regulator of microtubule reorganisation in apico-basal epithelial differentiation

Jonathan R Gadsby, Penny P. Powell, Paul Thomas, Elizabeth K Lund
2013-06-05

Genetic architecture of reciprocal CNVs

Nicholas Katsanis, Christelle Golzio
2013-04-01

Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome
2013-05-19

A functional variant in the CFI gene confers a high risk of age-related macular degeneration.

Nicholas Katsanis, Anna M. Blom
2013-01-01

High-throughput hyperdimensional vertebrate phenotyping

Peter M Eimon, Carolina Wählby, Mehmet Fatih Yanik, Amin Allalou, Carlos Pardo-Martin
2012-12-13

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

Kumarasamy Thangaraj, Tim Clausen, Pierre Gressens, Martin Breuss, Julian Ik-Tsen Heng, Nadia Bahi-Buisson, Karine Poirier, Alain Verloes, David Keays, Matilda A Haas
2012-11-14

Skeletogenic fate of zebrafish cranial and trunk neural crest
2012

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

Koen Devriendt, Alejandro Sifrim, Georgios A. Pavlopoulos, Joris R Vermeesch, Yves Moreau, Leon-Charles Tranchevent, Beata Nowakowska
2011-10-13

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies

Lina Basel-Vanagaite, Maximilian Muenke
2011-02-01

Asymmetric cell divisions promote Notch-dependent epidermal differentiation

エレイン・フックス, Slobodan Beronja, Scott E. Williams
2011-01-22

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".
2010-09

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

David Altshuler, Kristian Cibulskis, Stacey Gabriel, Aaron McKenna, Mark Joseph Daly, Andrey Sivachenko, Eric Banks, Andrew Kernytsky, Mark DePristo
2010-06-01

Plus-end-tracking proteins and their interactions at microtubule ends

Niels Galjart
2010-09

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
2010-04

A method and server for predicting damaging missense mutations

Peer Bork, Leonid Peshkin
2009

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
2009-02-01

Multiple congenital anomalies/mental retardation syndrome with multiple circumferential skin creases: a new syndrome?
2008-01-16

A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.

David Keays
2006-02-21

Structural intermediates in microtubule assembly and disassembly: how and why?

エヴァ・ノガレス
2005-08-10

Asymmetric cell divisions promote stratification and differentiation of mammalian skin

エレイン・フックス
2004-03-01

Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report.
2002-09-01

A second patient with MCA/MR syndrome with multiple circumferential skin creases
2001-01-01

Type II chaperonins, prefoldin, and the tubulin-specific chaperones
1999-04-12

EB/RP gene family encodes tubulin binding proteins
1997-03-17

Circumferential ringed creases ("Michelin tire babies") with specific histologic findings and/or karyotype abnormalities: clues to molecular pathogenesis?
1996-03-01

New syndrome?: MCA/MR syndrome with multiple circumferential skin creases
1993-01-01

Multiple circumferential skin folds and other anomalies: a problem in syndrome delineation

記事 - wd:Q36369958

Welcome to Inventaire

友達やコミュニティの図書館

もっと調べる

you are offline