Lista de obras -

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

artículo científico publicado en 1994

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

artículo científico publicado en 2000

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 1990

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

artículo científico publicado en 1990

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

artículo científico publicado en 2013

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

artículo científico publicado el 1 de junio de 1991

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

artículo científico publicado en 1994

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

artículo científico publicado en 2010

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

artículo científico publicado en 1995

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

artículo científico publicado en 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

artículo científico publicado en 1998

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

artículo científico publicado en 1988

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

artículo científico publicado el 1 de diciembre de 1991

Finger creases lend a hand in Kabuki syndrome.

artículo científico publicado en 2013

From monogenic to polygenic: model of Hirschsprung disease

artículo científico publicado en 1998

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

artículo científico publicado en 1996

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

artículo científico publicado en 1996

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

artículo científico publicado en 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.

artículo científico publicado en 1999

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

artículo científico publicado en 2001

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

artículo científico publicado en 1994

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 1998

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

artículo científico publicado en 1996

Phenotype-genotype correlations in X linked retinitis pigmentosa ⬇️

artículo científico publicado el 1 de septiembre de 1992

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

artículo científico publicado en 2005

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

artículo científico publicado en 1984

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de julio de 1992

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 1998

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

artículo científico publicado en 2017

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

artículo científico publicado en 1992

[Genetic counseling in ornithine carbamoyltransferase deficiency]

artículo científico publicado en 1988

[Genetics of Hirschsprung disease]

artículo científico publicado en 1996

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

article

Lista de obras de

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]