Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. (Q35546481)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140379%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. (English)

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17 January 2020

4

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17 January 2020

Lisa A Schimmenti

12

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17 January 2020

Neil R Friedman

13

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17 January 2020

author name string

A Theisen

1

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17 January 2020

J A Rosenfeld

2

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17 January 2020

K Shane

3

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17 January 2020

J F Atkin

5

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17 January 2020

C Gaba

6

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17 January 2020

J Hoo

7

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17 January 2020

T W Kurczynski

8

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17 January 2020

R E Schnur

9

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17 January 2020

L B Coffey

10

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17 January 2020

E H Zackai

11

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17 January 2020

M Zabukovec

14

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17 January 2020

S Ball

15

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17 January 2020

R Pagon

16

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17 January 2020

A Lucas

17

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17 January 2020

C K Brasington

18

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17 January 2020

J E Spence

19

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17 January 2020

S Sparks

20

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17 January 2020

V Banks

21

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17 January 2020

W Smith

22

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17 January 2020

T Friedberg

23

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17 January 2020

P R Wyatt

24

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17 January 2020

M Aust

25

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17 January 2020

R Tervo

26

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17 January 2020

A Crowley

27

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17 January 2020

D Skidmore

28

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A N Lamb

29

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17 January 2020

B Ravnan

30

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17 January 2020

T Sahoo

31

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17 January 2020

R Schultz

32

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17 January 2020

B S Torchia

33

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M Sgro

34

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D Chitayat

35

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17 January 2020

L G Shaffer

36

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17 January 2020

publication date

1 January 2010

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17 January 2020

published in

Molecular syndromology

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17 January 2020

volume

1

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17 January 2020

issue

5

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17 January 2020

page(s)

262-271

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

17 January 2020

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26 September 2018

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26 September 2018

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26 September 2018

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26 September 2018

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26 September 2018

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12 December 2020

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

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12 December 2020

Small interstitial deletion of the long arm of chromosome 2 (2q24.3): further delineation of 2q medial monosomy syndrome

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12 December 2020

Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus

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12 December 2020

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Generalized epilepsy with febrile seizures plus: novel SCN1A mutation

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Interstitial deletion del(2)(q24q31) with a phenotype similar to del(2)(q31q33)

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12 December 2020

Identifiers

DOI

10.1159/000328405

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140379%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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17 January 2020

PubMed publication ID

22140379

1 reference