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RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2019-09, Vol.26 (6), p.377-380

2019

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Apports de la génétique au diagnostic des troubles du spectre autistique

Neuropsychiatrie de l'enfance et de l'adolescence, 2016-10, Vol.64 (6), p.395-401

2016

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Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study

BMJ, 1999-10, Vol.319 (7218), p.1166-1167

International edition, 1999

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The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis

Journal of medical genetics, 2001-05, Vol.38 (5), p.310-311

2001

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Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes

Histochemistry and cell biology, 2007-08, Vol.128 (2), p.115-123

2007

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Polymorphisms of the Receptor of Advanced Glycation Endproducts (RAGE) and the development of nephropathy in type 1 diabetic patients

Diabetes & metabolism, 2005-02, Vol.31 (1), p.35-39

2005

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Microsatellite polymorphism in the promoter sequence of the elongation factor 3 gene of Candida albicans as the basis for a typing system

Journal of Clinical Microbiology, 1997-07, Vol.35 (7), p.1777-1780

1997

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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

Yearbook of Paediatric Endocrinology, 2022-09

2022

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TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Yearbook of Paediatric Endocrinology, 2019-09

2019

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Preparing and Using M13‐Derived Vectors

Current protocols in molecular biology (Print), 2001-05, Vol.Chapter 1 (1), p.1.15.1-1.15.8

2001

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Potential of denaturing gradient gel electrophoresis for scanning of β‐thalassemia mutations in India

American journal of hematology, 1999-06, Vol.61 (2), p.120-125

1999

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Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection

American journal of human genetics, 1999-08, Vol.65 (2), p.463-473

1999

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Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly

American journal of medical genetics. Part A, 2005-08, Vol.137A (1), p.98-99

2005

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Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

Genomics (San Diego, Calif.), 1992-07, Vol.13 (3), p.770-776

1992

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Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families

Prenatal diagnosis, 1997-07, Vol.17 (7), p.657-663

1997

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Characterization of a putative type IV aminophospholipid transporter P-type ATPase

Mammalian genome, 2003-01, Vol.14 (1), p.21-30

2003

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GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays

BioTechniques, 2005-08, Vol.39 (2), p.180-184

2005

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Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

Human molecular genetics, 1995-03, Vol.4 (3), p.383-388

1995

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Enhanced cloning efficiency of mouse bone marrow macrophage progenitors correlates with increased content of CSF-1 receptor of their progeny at low oxygen tension

Microbes and infection, 2003-10, Vol.5 (12), p.1064-1069

2003

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Molecular cloning of cDNA for rat L-type pyruvate kinase and aldolase B

The Journal of biological chemistry, 1983-12, Vol.258 (23), p.14576-14584

1983

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A Simple Approach to the Characterization of Three Common Indian β-Thalassemia Mutations by Artificially Created Restriction Sites

Hemoglobin, 2000-01, Vol.24 (4), p.311-318

2000

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Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes

Histochemistry and cell biology, 2007-07, Vol.128 (2), p.115-123

2007

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Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis

Human mutation, 1999, Vol.14 (1), p.80-83

1999

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Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections

European journal of human genetics : EJHG, 1999-09, Vol.7 (6), p.679-686

1999

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Dietary and hormonal regulation of aldolase B gene expression

The Journal of clinical investigation, 1985-03, Vol.75 (3), p.1045-1052

1985

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RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making

Apports de la génétique au diagnostic des troubles du spectre autistique

Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study

The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosis

Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes

Polymorphisms of the Receptor of Advanced Glycation Endproducts (RAGE) and the development of nephropathy in type 1 diabetic patients

Microsatellite polymorphism in the promoter sequence of the elongation factor 3 gene of Candida albicans as the basis for a typing system

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

Preparing and Using M13‐Derived Vectors

Potential of denaturing gradient gel electrophoresis for scanning of β‐thalassemia mutations in India

Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection

Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly

Molecular characterization of cystic fibrosis: 16 Novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families

Characterization of a putative type IV aminophospholipid transporter P-type ATPase

GeneRetriever: software to extract all genes and transcripts in between two genetic markers to assist design of human custom microarrays

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

Enhanced cloning efficiency of mouse bone marrow macrophage progenitors correlates with increased content of CSF-1 receptor of their progeny at low oxygen tension

Molecular cloning of cDNA for rat L-type pyruvate kinase and aldolase B

A Simple Approach to the Characterization of Three Common Indian β-Thalassemia Mutations by Artificially Created Restriction Sites

Decreased expression of Intestinal I- and L-FABP levels in rare human genetic lipid malabsorption syndromes

Genotyping of the three major allelic variants of the human mannose-binding lectin gene by denaturing gradient gel electrophoresis

Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections

Dietary and hormonal regulation of aldolase B gene expression

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