(Q24533455)

2

0 references

J Cobilanschi

3

0 references

M Meins

4

0 references

P Huppke

5

0 references

F Hanefeld

6

0 references

W Engel

American Journal of Human Genetics

7

0 references

language of work or name

English

0 references

publication date

May 2001

0 references

published in

0 references

volume

68

0 references

issue

5

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page(s)

1093-101

0 references

cites work

Regulation of X-chromosome inactivation in development in mice and humans

1 reference

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Parent-of-origin effects in multiple endocrine neoplasia type 2B

24 March 2017

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

24 March 2017

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A simple salting out procedure for extracting DNA from human nucleated cells

24 March 2017

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Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

24 March 2017

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Rett syndrome: a surprising result of mutation in MECP2.

24 March 2017

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

27 September 2017

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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

27 September 2017

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Exclusive paternal origin of new mutations in Apert syndrome

27 September 2017

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High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders

27 September 2017

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X-linked dominant inherited diseases with lethality in hemizygous males

27 September 2017

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Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

27 September 2017

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

30 May 2018

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Rett syndrome: Criteria for inclusion and exclusion

30 May 2018

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30 May 2018

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7 January 2021

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Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls

1 reference

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Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

30 May 2018

1 reference

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Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease

30 May 2018

1 reference

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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

30 May 2018

1 reference

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

30 May 2018

1 reference

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Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226090

MECP2 mutations account for most cases of typical forms of Rett syndrome.

29 November 2018

1 reference

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Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.

29 November 2018

1 reference

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The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

29 November 2018

1 reference

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Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

29 November 2018

1 reference

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Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

29 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862-->Ser substitution in a type I collagen gene (COL1A1)

1 reference

12 December 2020

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

1 reference

12 December 2020

Identifiers

DOI

10.1086/320109

1 reference

1 reference

1 reference

PubMed publication ID

11309679

1 reference