Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome (Q36071991)

12 August 2017

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title

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome (English)

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12 August 2017

20

Stanislas Lyonnet

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Valérie Cormier-Daire

7

Valérie Cormier-Daire

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Martine Le Merrer

10

Martine Le Merrer

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Serge Romana

Serge Romana

18

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Jeanne Amiel

Jeanne Amiel

4

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Damien Sanlaville

Damien Sanlaville

1

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Annick Toutain

15

Annick Toutain

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12 August 2017

19

Arnold Munnich

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12 August 2017

16

Alain Verloes

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12 August 2017

21

Michel Vekemans

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12 August 2017

5

Clarisse Baumann

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12 August 2017

David Genevieve

2

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12 August 2017

Céline Bernardin

3

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12 August 2017

Marie-Christine de Blois

6

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12 August 2017

Bénédicte Gerard

8

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12 August 2017

Marion Gerard

9

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12 August 2017

Philippe Parent

11

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12 August 2017

Fabienne Prieur

12

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12 August 2017

Marguerite Prieur

13

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12 August 2017

Odile Raoul

14

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12 August 2017

Géraldine Viot

17

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12 August 2017

Catherine Turleau

22

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12 August 2017

1 May 2005

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European Journal of Human Genetics

12 August 2017

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12 August 2017

13

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12 August 2017

690-693

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12 August 2017

5

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201383

12 August 2017

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cites work

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

1 reference

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A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

21 January 2018

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Kabuki syndrome: a review study of three hundred patients

21 January 2018

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Kabuki make-up syndrome: a review

21 January 2018

1 reference

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Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

21 January 2018

1 reference

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Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster

21 January 2018

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In situ hybridization to interphase nuclei in acute leukemia

21 January 2018

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Dominant inheritance of Kabuki make-up syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

7 January 2021

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

7 January 2021

Duplication of chromosome region 8p23.1 ? p23.3: A benign variant?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

7 January 2021

Confirmation of the chromosome 8p23.1 euchromatic duplication as a variant with no clinical manifestations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201383

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201383

1 reference

12 August 2017

1 reference