(Q24291067)

nervous system development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

T Ono

4

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author name string

N Wakamatsu

1

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Y Yamada

2

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K Yamada

3

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N Nomura

5

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H Taniguchi

6

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H Kitoh

7

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N Mutoh

8

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T Yamanaka

9

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K Mushiake

10

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K Kato

11

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S Sonta

12

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M Nagaya

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

13

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language of work or name

English

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publication date

April 2001

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published in

Nature Genetics

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volume

27

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issue

4

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page(s)

369-70

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cites work

1 reference

7 January 2021

Familial patterns of central nervous system dysfunction, growth deficiency, facial clefts and congenital megacolon: a specific disorder?

1 reference

7 January 2021

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs

1 reference

7 January 2021

Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome

1 reference

7 January 2021

The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation

1 reference

7 January 2021

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

1 reference

7 January 2021

XSIP1, a member of two-handed zinc finger proteins, induced anterior neural markers in Xenopus laevis animal cap.

1 reference

7 January 2021

SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes

1 reference

7 January 2021

New mode of DNA binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites

1 reference

7 January 2021