(Q34550767)

3 August 2017

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. (English)

1 reference

3 August 2017

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7

Erik A Sistermans

1 reference

Adrianus Henricus Maria Geurts van Kessel

3 August 2017

9

object named as

Ad Geurts van Kessel

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Joris A Veltman

object named as

Joris A Veltman

3

0 references

Han G. Brunner

8

object named as

Han G Brunner

1 reference

3 August 2017

4

Rolph Pfundt

1 reference

3 August 2017

5

Hans van Bokhoven

1 reference

3 August 2017

10

Bert B A de Vries

1 reference

3 August 2017

9

Ad Geurts van Kessel

1 reference

3 August 2017

David A Koolen

1

1 reference

3 August 2017

Jos Herbergs

2

1 reference

3 August 2017

Hans Stroink

6

1 reference

3 August 2017

25 July 2006

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Journal of Human Genetics

3 August 2017

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3 August 2017

51

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3 August 2017

8

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3 August 2017

721-726

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0010-8

3 August 2017

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cites work

The sonic hedgehog-patched-gli pathway in human development and disease

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-006-0010-8

Diagnostic genome profiling in mental retardation

21 January 2018

1 reference

12 December 2020

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

1 reference

12 December 2020

Evidence for the direct involvement of {beta}TrCP in Gli3 protein processing

1 reference

12 December 2020

Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations

1 reference

12 December 2020

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).

1 reference

12 December 2020

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

1 reference

12 December 2020

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

1 reference

12 December 2020

Mutations in holoprosencephaly

1 reference

12 December 2020

Human developmental disorders and the Sonic hedgehog pathway

1 reference

12 December 2020

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

1 reference

12 December 2020

Progression of vertebrate limb development through SHH-mediated counteraction of GLI3.

1 reference

12 December 2020

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

1 reference

12 December 2020

Partial trisomy 5q and partial monosomy 5q within the same family

1 reference

12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Partial trisomy 5q: three different phenotypes depending on different duplication segments

1 reference

12 December 2020

The F-box protein family.

1 reference

12 December 2020

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

12 December 2020

Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6.

1 reference

12 December 2020

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

1 reference

12 December 2020

Proteolysis that is inhibited by hedgehog targets Cubitus interruptus protein to the nucleus and converts it to a repressor

1 reference

12 December 2020

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

1 reference

12 December 2020

10.1007/S10038-006-0010-8

Identifiers

DOI

1 reference

3 August 2017

1 reference