Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature (Q57757783)

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23 February 2020

review article

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title

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature (English)

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23 February 2020

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3

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Didier Lacombe

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Marlene Rio

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Serge Romana

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Laurence Colleaux

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Valérie Malan

35

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Delphine Héron

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23 February 2020

author name string

Mathilde Nizon

1

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23 February 2020

Joris Andrieux

2

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23 February 2020

Marie-Christine de Blois

4

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Emilie Bourel-Ponchel

5

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Béatrice Bourgois

6

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Odile Boute

7

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Albert David

8

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Bruno Delobel

9

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Bénédicte Duban-Bedu

10

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Fabienne Giuliano

11

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Alice Goldenberg

12

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Sarah Grotto

13

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Houda Karmous-Benailly

15

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Boris Keren

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Jean-Michel Lapierre

18

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Cédric Le Caignec

19

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Eric Le Galloudec

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Martine Le Merrer

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Anne-Gaëlle Le Moing

22

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Michèle Mathieu-Dramard

23

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Sylvie Nusbaum

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Olivier Pichon

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Lucile Pinson

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Odile Raoul

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Agnès Roubertie

30

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23 February 2020

Catherine Turleau

32

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Michel Vekemans

33

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Rima Nabbout

34

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language of work or name

English

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publication date

25 November 2014

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American Journal of Medical Genetics

23 February 2020

published in

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volume

167A

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23 February 2020

page(s)

111-122

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issue

1

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Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

23 February 2020

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Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

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X-inactivation profile reveals extensive variability in X-linked gene expression in females

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Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

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Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

21 January 2018

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Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

21 January 2018

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Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

21 January 2018

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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

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Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

21 January 2018

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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

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Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36807

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25425167%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

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