(Q31116560)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17584896%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

title

Single median maxillary central incisor: new data and mutation review (English)

1 reference

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1 January 2020

1

1 reference

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1 January 2020

Marcia G. Ribeiro

4

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1 January 2020

Ana Maria Bolognese

5

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1 January 2020

author name string

Renata F Fonseca

2

1 reference

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1 January 2020

Miguel A Moreira

3

1 reference

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1 January 2020

Sânia O Dias

6

1 reference

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1 January 2020

Eliane T Pereira

7

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1 January 2020

Eduardo E Castilla

8

1 reference

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1 January 2020

Iêda M Orioli

9

1 reference

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1 January 2020

publication date

1 August 2007

1 reference

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Birth Defects Research Part A: Clinical and Molecular Teratology

1 January 2020

published in

1 reference

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1 January 2020

volume

79

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1 January 2020

issue

8

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1 January 2020

page(s)

573-580

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Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities

1 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

Holoprosencephaly: clinical, anatomic, and molecular dimensions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

Microform holoprosencephaly in mice that lack the Ig superfamily member Cdon.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

Central nervous system malformations in the CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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/10.1002%2FBDRA.20380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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/10.1002%2FBDRA.20380

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FBDRA.20380

21 January 2018

Identifiers

DOI

10.1002/BDRA.20380

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17584896%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

1 reference