List of works - Anastella Pelet

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease

scientific article published on 01 August 1994

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

scientific article published in March 1994

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

scientific article published on January 2000

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

scientific article

A novel polymorphism in the coding sequence of the human RET proto-oncogene

article

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency

scientific article published on 01 January 1990

Action of the antiepileptic drug, valproic acid, on fatty acid oxidation in isolated rat hepatocytes

scientific article published on 01 September 1983

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease

scientific article published on 08 November 2006

An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia

scientific article published on 01 January 1990

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

scientific article published in January 1990

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease

scientific article

Contribution to carrier detection and genetic counselling in X linked retinoschisis ⬇️

scientific article published on June 1, 1991

De-novo mutations of the RET proto-oncogene in Hirschsprung's disease

scientific article published in The Lancet

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

scientific article

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

scientific article published on 01 August 1995

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

scientific article published on July 1997

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Exclusion ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

article

Expression of theRET proto-oncogene in human Embryos

scientific article published on 28 December 1998

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

scientific article published on 01 January 1988

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene ⬇️

scientific article published on December 1, 1991

Finger creases lend a hand in Kabuki syndrome.

scientific article

From monogenic to polygenic: model of Hirschsprung disease

scientific article published in November 1998

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

scientific article

Heterogeneity of the triple A syndrome and assessment of a case

scientific article published on 01 January 2006

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

scientific article (publication date: March 1996)

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

scientific article (publication date: March 2009)

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

scientific article published on May 2009

Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.

scientific article published on March 1999

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

scientific article

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

scientific article

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

scientific article

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

scientific article published on 27 January 2006

Mutations of the RET-GDNF signaling pathway in Ondine's curse

scientific article

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

scientific article

Phenotype-genotype correlations in X linked retinitis pigmentosa ⬇️

scientific article published on September 1, 1992

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

scientific article

Potentiation by piridoxilate of the synthesis of hippurate from benzoate in isolated rat hepatocytes. An approach to the determination of new pathways of nitrogen excretion in inborn errors of urea synthesis

scientific article published on 01 January 1984

RET proto-oncogene: role in kidney development and molecular pathology.

scientific article published on January 1998

Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

article

Site specific screening for point mutations in ornithine transcarbamylase deficiency ⬇️

scientific article published on July 1, 1992

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.

scientific article published on July 2008

Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases

scientific article published on 21 April 2005

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

scientific article published on 3 October 2016

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

scientific article

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

scientific article

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

scientific article published in July 1992

[Genetic counseling in ornithine carbamoyltransferase deficiency]

scientific article published on 01 January 1988

[Genetics of Hirschsprung disease]

scientific article published on 01 January 1996

[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease]

article

List of works by Anastella Pelet

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease

A gene for achondroplasia–hypochondroplasia maps to chromosome 4p

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

A novel polymorphism in the coding sequence of the human RET proto-oncogene

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency

Action of the antiepileptic drug, valproic acid, on fatty acid oxidation in isolated rat hepatocytes

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease

An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease

Contribution to carrier detection and genetic counselling in X linked retinoschisis ⬇️

De-novo mutations of the RET proto-oncogene in Hirschsprung's disease

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Exclusion ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

Expression of theRET proto-oncogene in human Embryos

Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene ⬇️

Finger creases lend a hand in Kabuki syndrome.

From monogenic to polygenic: model of Hirschsprung disease

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

Heterogeneity of the triple A syndrome and assessment of a case

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.

Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus

Mutations of the RET-GDNF signaling pathway in Ondine's curse

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

Phenotype-genotype correlations in X linked retinitis pigmentosa ⬇️

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Potentiation by piridoxilate of the synthesis of hippurate from benzoate in isolated rat hepatocytes. An approach to the determination of new pathways of nitrogen excretion in inborn errors of urea synthesis

RET proto-oncogene: role in kidney development and molecular pathology.

Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

Site specific screening for point mutations in ornithine transcarbamylase deficiency ⬇️

Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.

Thyroid Hemiagenesis Is a Rare Variant of Thyroid Dysgenesis with a Familial Component but without Pax8 Mutations in a Cohort of 22 Cases

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

[Genetic counseling in ornithine carbamoyltransferase deficiency]

[Genetics of Hirschsprung disease]

[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease]