(Q34329523)

1 August 2017

title

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes (English)

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1 August 2017

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Aimée D C Paulussen

1

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1 August 2017

Constance T Schrander-Stumpel

2

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1 August 2017

Demis C J Tserpelis

3

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1 August 2017

Matteus K M Spee

4

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1 August 2017

Alexander P A Stegmann

5

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1 August 2017

Grazia M Mancini

6

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1 August 2017

Alice S Brooks

7

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1 August 2017

Margriet Collée

8

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1 August 2017

Anneke Maat-Kievit

9

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1 August 2017

Marleen E H Simon

10

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1 August 2017

Yolande van Bever

11

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1 August 2017

Irene Stolte-Dijkstra

12

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1 August 2017

Wilhelmina S Kerstjens-Frederikse

13

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1 August 2017

Johanna C Herkert

14

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1 August 2017

Anthonie J van Essen

15

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1 August 2017

Klaske D Lichtenbelt

16

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1 August 2017

Arie van Haeringen

17

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1 August 2017

Mei L Kwee

18

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1 August 2017

Augusta M A Lachmeijer

19

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1 August 2017

Gita M B Tan-Sindhunata

20

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1 August 2017

Merel C van Maarle

21

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1 August 2017

Yvonne H J M Arens

22

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1 August 2017

Eric E J G L Smeets

23

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1 August 2017

Christine E de Die-Smulders

24

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1 August 2017

John J M Engelen

25

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1 August 2017

Hubertus J Smeets

26

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1 August 2017

Jos Herbergs

27

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1 August 2017

language of work or name

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9 June 2010

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

18

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1 August 2017

issue

9

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1 August 2017

page(s)

999-1005

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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Single median maxillary central incisor: new data and mutation review.

6 July 2018

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6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Holoprosencephaly: clinical, anatomic, and molecular dimensions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Functional analysis of mutations in TGIF associated with holoprosencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

A highly conserved amino-terminal region of sonic hedgehog is required for the formation of its freely diffusible multimeric form.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Evaluation and management of children with holoprosencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Holoprosencephaly: variation of expression in face and brain in three sibs

6 July 2018

1 reference

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Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci

6 July 2018

1 reference

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The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.70

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.70

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.70

Holoprosencephaly-like phenotype: clinical and genetic perspectives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.70

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.70

Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

The middle interhemispheric variant of holoprosencephaly

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987413

Phenotypic and molecular variability of the holoprosencephalic spectrum

27 October 2018

1 reference

12 December 2020

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

1 reference

12 December 2020

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor

1 reference

12 December 2020

Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype

1 reference

12 December 2020

SIX3 mutations with holoprosencephaly

1 reference

12 December 2020

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

1 reference

12 December 2020

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

1 reference

12 December 2020

Alobar Holoprosencephaly (Arhinencephaly) with Median Cleft Lip and Palate: Clinical, Electroencephalographic and Nosologic Considerations (Part 1 of 2)

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.70

7 January 2021

inferred from DOI database lookup

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.70

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2010.70

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Dimensions Publication ID

1 August 2017

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1 August 2017

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