(Q34084974)

30 July 2017

1 reference

title

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

1 reference

solitary median maxillary central incisor syndrome

30 July 2017

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1 reference

Nanni L

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30 July 2017

Ming JE

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30 July 2017

Du Y

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30 July 2017

Hall RK

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30 July 2017

Aldred M

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30 July 2017

Bankier A

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30 July 2017

Muenke M

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30 July 2017

publication date

1 July 2001

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American Journal of Medical Genetics Part A

30 July 2017

published in

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30 July 2017

volume

102

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30 July 2017

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30 July 2017

page(s)

1-10

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Congenital nasal pyriform aperture stenosis. Isolated abnormality vs developmental field defect

30 July 2017

cites work

1 reference

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Microphthalmia with single central incisor and hypopituitarism

21 January 2018

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Single maxillary central incisor in a girl with del(18p) syndrome

21 January 2018

1 reference

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Single central incisor in familial holoprosencephaly

21 January 2018

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

21 January 2018

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Holoprosencephaly: a family showing dominant inheritance and variable expression

21 January 2018

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Holoprosencephaly: a defect in brain patterning

21 January 2018

1 reference

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

21 January 2018

1 reference

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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%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Solitary maxillary central incisor as a new finding in CHARGE association: a report of two cases

21 January 2018

1 reference

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Single central maxillary incisor and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Clinician's view of hypodontia

21 January 2018

1 reference

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Palate structure in human holoprosencephaly correlates with the facial malformation and demonstrates a new palatal developmental field

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Aplasia of right internal carotid artery and hypopituitarism

21 January 2018

1 reference

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Solitary maxillary central incisor and congenital nasal pyriform aperture stenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

21 January 2018

1 reference

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Pituitary hypoplasia associated with a single central maxillary incisor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

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%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 January 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/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Holoprosencephaly: molecular study of a California population

21 January 2018

1 reference

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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%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Holoprosencephaly: a paradigm for the complex genetics of brain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Patterning of the embryonic forebrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Congenitally missing maxillary central incisor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Nasal pyriform aperture stenosis and the holoprosencephaly spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Solitary maxillary central incisor and normal stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Solitary maxillary central incisor in the midline associated with systemic disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

18p-- syndrome with a single central maxillary incisor

21 January 2018

1 reference

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Connation of maxillary incisors

21 January 2018

1 reference

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Single central maxillary incisor and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C1%3A%3AAID-AJMG1336%3E3.0.CO%3B2-U

Congenital nasal pyriform aperture stenosis and single central maxillary incisor: CT and MRI findings

21 January 2018

1 reference

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Solitary maxillary central incisor and short stature

21 January 2018

1 reference

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Single central maxillary incisor with nasal pyriform aperture stenosis--CT diagnosis prior to tooth eruption

21 January 2018

1 reference

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Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia

21 January 2018

1 reference

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Solitary central maxillary incisor associated with precocious puberty and hypothalamic hamartoma

21 January 2018

1 reference

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10.1002/1096-8628(20010722)102:1<1::AID-AJMG1336>3.0.CO;2-U

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference