Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes (Q34410073)

2 August 2017

Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes (English)

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2 August 2017

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Deepak Kamnasaran

1

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2 August 2017

Chih-Ping Chen

2

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2 August 2017

Koenraad Devriendt

3

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2 August 2017

Lakshmi Mehta

4

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2 August 2017

Diane W Cox

5

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2 August 2017

1 May 2005

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2 August 2017

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2 August 2017

85

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2 August 2017

5

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2 August 2017

608-621

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Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology

2 August 2017

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

The molecular genetics of holoprosencephaly: a model of brain development for the next century

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Fast1 is required for the development of dorsal axial structures in zebrafish

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

De novo interstitial proximal deletion of 14q and prenatal diagnosis of holoprosencephaly

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Mutations in TITF-1 are associated with benign hereditary chorea

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Disruption of the neuronal PAS3 gene in a family affected with schizophrenia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Pim-1 translocates sorting nexin 6/TRAF4-associated factor 2 from cytoplasm to nucleus

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Characterization of npas3, a novel basic helix-loop-helix PAS gene expressed in the developing mouse nervous system.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Position effect in human genetic disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

The expression of the mouse Zic1, Zic2, and Zic3 gene suggests an essential role for Zic genes in body pattern formation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Defective forebrain development in mice lacking gp330/megalin

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Mutation of PAX9 is associated with oligodontia

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Isolation of the Pax9 cDNA from adult human esophagus

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Thyroid transcription factor-1.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

TTF-1, a homeodomain gene required for diencephalic morphogenesis, is postnatally expressed in the neuroendocrine brain in a developmentally regulated and cell-specific fashion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Twin pregnancy discordant for trisomy 14 mosaicism: prenatal sonographic findings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

A large family of endosome-localized proteins related to sorting nexin 1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

cyclops encodes a nodal-related factor involved in midline signaling

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Control of cell lineage-specific development and transcription by bHLH-PAS proteins

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Remembrance of things PAS: regulation of development by bHLH-PAS proteins

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Behavioral and regulatory abnormalities in mice deficient in the NPAS1 and NPAS3 transcription factors

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Molecular genetics of the single-minded locus: a gene involved in the development of the Drosophila nervous system

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

The Drosophila single-minded gene encodes a helix-loop-helix protein that acts as a master regulator of CNS midline development

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Psychosis associated with lobar holoprosencephaly

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2005.01.010

10.1016/J.YGENO.2005.01.010

7 January 2021

Identifiers

DOI

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release_42z4wnnzkze4hf6mrxquhorjwy

2 August 2017

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Fatcat

https://api.fatcat.wiki/v0/release/42z4wnnzkze4hf6mrxquhorjwy

mapped directly with Wikidata item

24 November 2022

based on heuristic

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