(Q50302372)

2 March 2018

title

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity (English)

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2 March 2018

Ruxandra Bachmann-Gagescu

main subject

obesity

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author

1

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2 March 2018

Aline I. Hamati

8

Aline Hamati

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2 March 2018

Heather C. Mefford

2

Heather C Mefford

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2 March 2018

Evan E. Eichler

14

Evan E Eichler

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2 March 2018

Gwen M Glew

4

Gwen M Glew

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2 March 2018

Patricia I Bader

7

Patricia I Bader

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2 March 2018

Anne V Hing

5

Anne V Hing

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2 March 2018

Hiltrud Muhle

12

Hiltrud Muhle

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2 March 2018

Blake C Ballif

15

Blake C Ballif

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2 March 2018

author name string

Charles Cowan

3

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2 March 2018

Stephanie Wallace

6

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2 March 2018

Pamela J Reitnauer

9

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2 March 2018

Rosemarie Smith

10

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2 March 2018

David W Stockton

11

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2 March 2018

Ingo Helbig

13

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2 March 2018

Jill Rosenfeld

16

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2 March 2018

Karen D Tsuchiya

17

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2 March 2018

language of work or name

English

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publication date

1 October 2010

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2 March 2018

published in

Genetics in Medicine

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2 March 2018

volume

12

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2 March 2018

issue

10

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2 March 2018

page(s)

641-647

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2 March 2018

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

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Large, rare chromosomal deletions associated with severe early-onset obesity

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

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21 January 2018

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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

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21 January 2018

Identifiers

DOI

1 reference

2 March 2018

Dimensions Publication ID

1024609169

0 references

1 reference

2 March 2018