Autosomal Cleft Palate Latest Advances

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: January 17, 2025

Dominant Stickler Syndrome.

Journal: Genes

Published: June 02, 2022

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Journal: Molecular syndromology

Published: January 09, 2022

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Journal: Human molecular genetics

Published: March 24, 2020

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Journal: Human molecular genetics

Published: January 18, 2020

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

Journal: American journal of medical genetics. Part A

Published: August 02, 2017

Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate.

Journal: Birth defects research

Published: June 29, 2017

A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.

Journal: Gene

Published: February 15, 2017

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Journal: American journal of medical genetics. Part A

Published: January 22, 2017

Three cases of Gordon syndrome with dominant KLHL3 mutations.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: August 06, 2016

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology.

Journal: Clinical genetics

Published: March 29, 2016

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

Journal: PloS one

Published: November 01, 2013

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Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance.

Dominant Stickler Syndrome.

Dominant Stickler Syndrome.

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

Familial autosomal dominant severe ankyloglossia with tooth abnormalities.

Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate.

Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate.

A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.

A dominant negative FGFR1 mutation identified in a Kallmann syndrome patient.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Three cases of Gordon syndrome with dominant KLHL3 mutations.

Three cases of Gordon syndrome with dominant KLHL3 mutations.

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology.

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology.

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.

Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.