Literature DB >> 11283201

Rett syndrome and the MECP2 gene.

T Webb1, F Latif.   

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Year:  2001        PMID： 11283201      PMCID： PMC1734858          DOI： 10.1136/jmg.38.4.217

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


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  44 in total

1.  Functional consequences of Rett syndrome mutations on human MeCP2.

Authors:  T M Yusufzai; A P Wolffe
Journal:  Nucleic Acids Res       Date:  2000-11-01       Impact factor: 16.971

Review 2.  Chromatin modification and disease.

Authors:  C A Johnson
Journal:  J Med Genet       Date:  2000-12       Impact factor: 6.318

3.  Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.

Authors:  K Hampson; C G Woods; F Latif; T Webb
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

4.  Preserved speech variant is allelic of classic Rett syndrome.

Authors:  C De Bona; M Zappella; G Hayek; I Meloni; F Vitelli; M Bruttini; R Cusano; P Loffredo; I Longo; A Renieri
Journal:  Eur J Hum Genet       Date:  2000-05       Impact factor: 4.246

5.  A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

Authors:  I Meloni; M Bruttini; I Longo; F Mari; F Rizzolio; P D'Adamo; K Denvriendt; J P Fryns; D Toniolo; A Renieri
Journal:  Am J Hum Genet       Date:  2000-09-12       Impact factor: 11.025

Review 6.  Rett syndrome: a surprising result of mutation in MECP2.

Authors:  J Dragich; I Houwink-Manville; C Schanen
Journal:  Hum Mol Genet       Date:  2000-10       Impact factor: 6.150

7.  MECP2 mutation in male patients with non-specific X-linked mental retardation.

Authors:  A Orrico; C Lam; L Galli; M T Dotti; G Hayek; S F Tong; P M Poon; M Zappella; A Federico; V Sorrentino
Journal:  FEBS Lett       Date:  2000-09-22       Impact factor: 4.124

8.  Two affected boys in a Rett syndrome family: clinical and molecular findings.

Authors:  L Villard; A Kpebe; C Cardoso; P J Chelly; P M Tardieu; M Fontes
Journal:  Neurology       Date:  2000-10-24       Impact factor: 9.910

9.  Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.

Authors:  K Amano; Y Nomura; M Segawa; K Yamakawa
Journal:  J Hum Genet       Date:  2000       Impact factor: 3.172

10.  Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

Authors:  I M Buyse; P Fang; K T Hoon; R E Amir; H Y Zoghbi; B B Roa
Journal:  Am J Hum Genet       Date:  2000-10-30       Impact factor: 11.043
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  6 in total

1.  Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.

Authors:  N Van der Aa; M Van den Bergh; N Ponomarenko; L Verstraete; B Ceulemans; K Storm
Journal:  Mol Syndromol       Date:  2011-08-09

Review 2.  Methylation matters.

Authors:  J F Costello; C Plass
Journal:  J Med Genet       Date:  2001-05       Impact factor: 6.318

3.  Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Authors:  Linda S Weaving; John Christodoulou; Sarah L Williamson; Kathie L Friend; Olivia L D McKenzie; Hayley Archer; Julie Evans; Angus Clarke; Gregory J Pelka; Patrick P L Tam; Catherine Watson; Hooshang Lahooti; Carolyn J Ellaway; Bruce Bennetts; Helen Leonard; Jozef Gécz
Journal:  Am J Hum Genet       Date:  2004-10-18       Impact factor: 11.025

4.  The impact of MECP2 mutations in the expression patterns of Rett syndrome patients.

Authors:  Esteban Ballestar; Santiago Ropero; Miguel Alaminos; Judith Armstrong; Fernando Setien; Ruben Agrelo; Mario F Fraga; Michel Herranz; Sonia Avila; Mercedes Pineda; Eugenia Monros; Manel Esteller
Journal:  Hum Genet       Date:  2004-11-11       Impact factor: 4.132

5.  The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications.

Authors:  Daniel J Guerra
Journal:  Autism Res Treat       Date:  2011-05-17

6.  Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Authors:  Heidi Cope; Rebecca Spillmann; Jill A Rosenfeld; Elly Brokamp; Rebecca Signer; Kelly Schoch; Emily G Kelley; Jennifer A Sullivan; Ellen Macnamara; Sharyn Lincoln; Katie Golden-Grant; James P Orengo; Gary Clark; Lindsay C Burrage; Jennifer E Posey; Jaya Punetha; Amy Robertson; Joy Cogan; John A Phillips; Julian Martinez-Agosto; Vandana Shashi
Journal:  Mol Genet Genomic Med       Date:  2020-07-30       Impact factor: 2.183
  6 in total

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