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Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis

Diabetic medicine, 2010-10, Vol.27 (10), p.1195-1200

2010

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Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2017-06, Vol.24 (6), p.547-551

2017

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Neural Crest Neuroblasts Can Colonise Aganglionic and Ganglionic Gut In Vivo

European journal of pediatric surgery, 2007-02, Vol.17 (1), p.34-40

2007

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P004 Clinical consequences and functional impact of the rare S737F CFTR variant

Journal of cystic fibrosis, 2023-06, Vol.22, p.S65-S65

2023

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Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

American journal of human genetics, 1999-04, Vol.64 (4), p.1216-1221

1999

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The Sensitivity of Activated Cys Ret Mutants to Glial Cell Line-Derived Neurotrophic Factor Is Mandatory To Rescue Neuroectodermic Cells from Apoptosis

Molecular and Cellular Biology, 2001-10, Vol.21 (20), p.6719-6730

2001

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EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

Human mutation, 2013-06, Vol.34 (6), p.894-904

2013

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Exon Structure and Flanking Intronic Sequences of the Human RET Proto-oncogene

Biochemical and biophysical research communications, 1993-11, Vol.196 (3), p.1288-1295

1993

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Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d’un cas de diagnostic tardif

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2017-06, Vol.24 (6), p.547-551

2017

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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Genetics in medicine, 2010-07, Vol.12 (7), p.431-439

2010

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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Nature (London), 1994-01, Vol.367 (6461), p.377-378

1994

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Glial cell line-derived neurotrophic factor-stimulated phosphatidylinositol 3-kinase and Akt activities exert opposing effects on the ERK pathway: importance for the rescue of neuroectodermic cells

The Journal of biological chemistry, 2001-11, Vol.276 (48), p.45307-45319

2001

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Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

European journal of human genetics : EJHG, 1994, Vol.2 (4), p.272-280

1994

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Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene

Human mutation, 2005-11, Vol.26 (5), p.426-436

2005

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Loss of function effect of RET mutations causing Hirschsprung disease

Nature genetics, 1995-05, Vol.10 (1), p.35-40

1995

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Frequency of RET mutations in long- and short-segment Hirschsprung disease

Human mutation, 1997, Vol.9 (3), p.243-249

1997

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A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation

International journal of molecular medicine, 2005-08, Vol.16 (2), p.325

2005

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DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene

Oncogene, 1994-10, Vol.9 (10), p.3025-3029

1994

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The multiple endocrine neoplasia type 2B point mutation switches the specificity of the Ret tyrosine kinase towards cellular substrates that are susceptible to interact with Crk and Nck

Oncogene, 1997-11, Vol.15 (19), p.2257-2265

1997

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A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

European journal of human genetics : EJHG, 2000-09, Vol.8 (9), p.721-724

2000

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RET activation by germline MEN2A and MEN2B mutations

Oncogene, 1995-12, Vol.11 (11), p.2419-2427

1995

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Histochemical study of Dom mouse: a model for Waardenburg-Hirschsprung’s phenotype

Journal of pediatric surgery, 2004-07, Vol.39 (7), p.1098-1103

2004

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The physical map of the human RET proto-oncogene

Oncogene, 1995-11, Vol.11 (9), p.1737-1743

1995

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Sequence and characterisation of the RET proto-oncogene 5′ flanking region: analysis of retinoic acid responsiveness at the transcriptional level

FEBS letters, 1997-12, Vol.419 (1), p.76-82

1997

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Hirschsprung associated GDNF mutations do not prevent RET activation

European journal of human genetics : EJHG, 2002-03, Vol.10 (3), p.183-187

2002

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Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis

Transverse reductional anomaly and atypical fibrodysplasia ossificans progressiva: A case diagnosed late

Neural Crest Neuroblasts Can Colonise Aganglionic and Ganglionic Gut In Vivo

P004 Clinical consequences and functional impact of the rare S737F CFTR variant

Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

The Sensitivity of Activated Cys Ret Mutants to Glial Cell Line-Derived Neurotrophic Factor Is Mandatory To Rescue Neuroectodermic Cells from Apoptosis

EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

Exon Structure and Flanking Intronic Sequences of the Human RET Proto-oncogene

Anomalie réductionnelle transverse et fibrodysplasie ossifiante progressive atypique, à propos d’un cas de diagnostic tardif

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

Glial cell line-derived neurotrophic factor-stimulated phosphatidylinositol 3-kinase and Akt activities exert opposing effects on the ERK pathway: importance for the rescue of neuroectodermic cells

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene

Loss of function effect of RET mutations causing Hirschsprung disease

Frequency of RET mutations in long- and short-segment Hirschsprung disease

A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene

The multiple endocrine neoplasia type 2B point mutation switches the specificity of the Ret tyrosine kinase towards cellular substrates that are susceptible to interact with Crk and Nck

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

RET activation by germline MEN2A and MEN2B mutations

Histochemical study of Dom mouse: a model for Waardenburg-Hirschsprung’s phenotype

The physical map of the human RET proto-oncogene

Sequence and characterisation of the RET proto-oncogene 5′ flanking region: analysis of retinoic acid responsiveness at the transcriptional level

Hirschsprung associated GDNF mutations do not prevent RET activation

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