(Q24316995)

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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations (English)

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17

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Andrea Superti-Furga

20

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1

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6

object named as

Karin Buiting

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Francisco Barrionuevo

object named as

Francisco Barrionuevo

9

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Kim M Keppler-Noreuil

12

object named as

Kim Keppler-Noreuil

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author name string

Detlef Böhm

2

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Frank J Kaiser

3

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Silke Kaulfuss

4

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Wiktor Borozdin

5

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Peter Burfeind

7

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Johann Böhm

8

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Alexander Craig

10

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Kristi Borowski

11

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Thomas Schmitt-Mechelke

13

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Bernhard Steiner

14

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Deborah Bartholdi

15

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Johannes Lemke

16

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Richard Sandford

18

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Bernhard Zabel

19

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Jürgen Kohlhase

21

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language of work or name

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publication date

March 2008

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Nature Genetics

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40

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3

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287-9

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Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

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https://api.crossref.org/works/10.1038/NG.86

20 April 2017

Okihiro syndrome is caused by SALL4 mutations

1 reference

https://api.crossref.org/works/10.1038/NG.86

20 April 2017

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

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https://api.crossref.org/works/10.1038/NG.86

20 April 2017

Direct induction of cyclin D2 by Myc contributes to cell cycle progression and sequestration of p27.

1 reference

https://api.crossref.org/works/10.1038/NG.86

20 April 2017

N-myc is essential during neurogenesis for the rapid expansion of progenitor cell populations and the inhibition of neuronal differentiation

1 reference

https://api.crossref.org/works/10.1038/NG.86

20 April 2017

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG.86

21 January 2018

A unique pattern of photoreceptor degeneration in cyclin D1 mutant mice

1 reference

https://api.crossref.org/works/10.1038%2FNG.86

21 January 2018

Cyclin D1 provides a link between development and oncogenesis in the retina and breast.

1 reference

https://api.crossref.org/works/10.1038%2FNG.86

21 January 2018

Synergistic cooperation of Sall4 and Cyclin D1 in transcriptional repression.

1 reference

https://api.crossref.org/works/10.1038%2FNG.86

21 January 2018

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

1 reference

https://api.crossref.org/works/10.1038%2FNG.86

21 January 2018

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FNG.86

21 January 2018

An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

1 reference

https://api.crossref.org/works/10.1038%2FNG.86

7 January 2021

based on heuristic

inferred from DOI database lookup

Oligonucleotide array-based comparative genomic hybridization (aCGH) of 90 neuroblastomas reveals aberration patterns closely associated with relapse pattern and outcome

1 reference

https://api.crossref.org/works/10.1038%2FNG.86

7 January 2021

based on heuristic

inferred from DOI database lookup

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