Literature DB >> 12011158

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

I Meloni, F Vitelli, L Pucci, R B Lowry, R Tonlorenzi, E Rossi, M Ventura, G Rizzoni, C E Kashtan, B Pober, A Renieri.   

Abstract

Entities:  

Mesh：

Year:  2002        PMID： 12011158      PMCID： PMC1735124          DOI： 10.1136/jmg.39.5.359

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


× No keyword cloud information.
  8 in total

1.  Long-chain Acyl-CoA synthetase 4A regulates Smad activity and dorsoventral patterning in the zebrafish embryo.

Authors:  Rosa Linda Miyares; Cornelia Stein; Björn Renisch; Jennifer Lynn Anderson; Matthias Hammerschmidt; Steven Arthur Farber
Journal:  Dev Cell       Date:  2013-12-12       Impact factor: 12.270

2.  X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.

Authors:  Hagith Yonath; Dina Marek-Yagel; Haike Resnik-Wolf; Almogit Abu-Horvitz; Hagit N Baris; Mordechai Shohat; Moshe Frydman; Elon Pras
Journal:  J Appl Genet       Date:  2011-05-17       Impact factor: 3.240

3.  Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

Authors:  Vera Uliana; Elena Marcocci; Mafalda Mucciolo; Ilaria Meloni; Claudia Izzi; Carlo Manno; Mirella Bruttini; Francesca Mari; Francesco Scolari; Alessandra Renieri; Leonardo Salviati
Journal:  Pediatr Nephrol       Date:  2010-12-14       Impact factor: 3.714

4.  Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.

Authors:  Alexander Hoischen; Christina Landwehr; Sarah Kabisch; Xiao-Qi Ding; Detlef Trost; Gerhard Stropahl; Marianne Wigger; Bernhard Radlwimmer; Ruthild G Weber; Dieter Haffner
Journal:  Pediatr Nephrol       Date:  2009-05-15       Impact factor: 3.714

5.  The genetic basis of non-syndromic intellectual disability: a review.

Authors:  Liana Kaufman; Muhammad Ayub; John B Vincent
Journal:  J Neurodev Disord       Date:  2010-07-29       Impact factor: 4.025

6.  AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Authors:  Gaia Andreoletti; Eleanor G Seaby; Jennifer M Dewing; Ita O'Kelly; Katherine Lachlan; Rodney D Gilbert; Sarah Ennis
Journal:  J Med Genet       Date:  2016-11-03       Impact factor: 6.318

7.  A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.

Authors:  I Longo; S G M Frints; J-P Fryns; I Meloni; C Pescucci; F Ariani; M Borghgraef; M Raynaud; P Marynen; C Schwartz; A Renieri; G Froyen
Journal:  J Med Genet       Date:  2003-01       Impact factor: 6.318

8.  A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.

Authors:  Swati R Chanchani; Hongyan Xie; Gurbax Sekhon; Ana M Melikishvili; Sue Moyer Harasink; Harpreet Pall; Philip F Giampietro
Journal:  Mol Genet Genomic Med       Date:  2020-01-17       Impact factor: 2.183
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.