Literature DB >> 19487540

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.

J H M Schuurs-Hoeijmakers, S Vermeer, B W M van Bon, R Pfundt, C Marcelis, A P M de Brouwer, N de Leeuw, Bert B A de Vries.   

Abstract

Mesh：

Year:  2009        PMID： 19487540     DOI： 10.1136/jmg.2009.066910

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  12 in total

1.  Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.

Authors:  Jill E Urquhart; Simon G Williams; Sanjeev S Bhaskar; Naomi Bowers; Jill Clayton-Smith; William G Newman
Journal:  J Hum Genet       Date:  2015-09-17       Impact factor: 3.172

2.  Cystinuria in a patient with 19q12q13.1 deletion.

Authors:  Teresa de Rojas; Cristina Aparicio; Carmen de Lucas; Beatriz Martinez; Belén Gil-Fournier; Soraya Ramiro-León
Journal:  CEN Case Rep       Date:  2015-09-19

3.  A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.

Authors:  Licia Lugli; Michela Malacarne; Simona Cavani; Mauro Pierluigi; Fabrizio Ferrari; Antonio Percesepe
Journal:  J Appl Genet       Date:  2011-03-03       Impact factor: 3.240

4.  Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

Authors:  Michael Zech; Sylvia Boesch; Esther M Maier; Ingo Borggraefe; Katharina Vill; Franco Laccone; Veronika Pilshofer; Andres Ceballos-Baumann; Bader Alhaddad; Riccardo Berutti; Werner Poewe; Tobias B Haack; Bernhard Haslinger; Tim M Strom; Juliane Winkelmann
Journal:  Am J Hum Genet       Date:  2016-11-10       Impact factor: 11.025

5.  Essential role of Wtip in mouse development and maintenance of the glomerular filtration barrier.

Authors:  Sethu M Madhavan; Martha Konieczkowski; Leslie A Bruggeman; Megan DeWalt; Jane K Nguyen; John F O'Toole; John R Sedor
Journal:  Am J Physiol Renal Physiol       Date:  2022-07-21

6.  19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Authors:  Simone Gana; Pierangelo Veggiotti; Giusy Sciacca; Cristina Fedeli; Anna Bersano; Giuseppe Micieli; Mohamad Maghnie; Roberto Ciccone; Elena Rossi; Katie Plunkett; Weimin Bi; Vernon R Sutton; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2012-02-29       Impact factor: 4.246

7.  Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.

Authors:  Joana B Melo; Alexandra Estevinho; Jorge Saraiva; Lina Ramos; Isabel M Carreira
Journal:  Mol Cytogenet       Date:  2015-03-26       Impact factor: 2.009

8.  19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype.

Authors:  Carlos Venegas-Vega; Karem Nieto-Martínez; Alejandro Martínez-Herrera; Laura Gómez-Laguna; Jaime Berumen; Alicia Cervantes; Susana Kofman; Fernando Fernández-Ramírez
Journal:  Mol Cytogenet       Date:  2014-12-12       Impact factor: 2.009

9.  A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Reports.

Authors:  John Hoon Rim; Jeong A Kim; Jongha Yoo
Journal:  Yonsei Med J       Date:  2017-11       Impact factor: 2.759

10.  19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.

Authors:  Kikue Terada Abe; Isabela M P O Rizzo; Ana L V Coelho; Nilo Sakai; Daniel R Carvalho; Carlos E Speck-Martins
Journal:  Clin Case Rep       Date:  2018-05-28
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.