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Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families

Clinical genetics, 2006-05, Vol.69 (5), p.437-440

2006

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Activating mutations of the calcium-sensing receptor : Management of hypocalcemia

The journal of clinical endocrinology and metabolism, 2001-11, Vol.86 (11), p.5313-5323

2001

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A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia

The journal of clinical endocrinology and metabolism, 2000-04, Vol.85 (4), p.1695-1702

2000

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Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene

European journal of endocrinology, 1999-06, Vol.140 (6), p.561-569

1999

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High Frequency of the Apolipoprotein E 4 Allele in African Pygmies and Most of the African Populations in Sub-Saharan Africa

Human biology, 1997-08, Vol.69 (4), p.575-581

1997

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Selection of the same mutation in the U69 protein kinase gene of human herpesvirus-6 after prolonged exposure to ganciclovir in vitro and in vivo

Journal of general virology, 2001-11, Vol.82 (11), p.2767-2776

2001

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Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients

Genetic counseling, 2009, Vol.20 (1), p.53

2009

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The GnRH receptor gene is preferentially expressed in functioning gonadotroph adenomas and displays a Mae III polymorphism site

Clinical endocrinology (Oxford), 1998-07, Vol.49 (1), p.115-123

1998

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A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism : Chronic estrogen administration amplifies the gonadotropin defect

The journal of clinical endocrinology and metabolism, 2000-09, Vol.85 (9), p.3002-3008

2000

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Assessment of French patients with LPL deficiency for French Canadian mutations

Journal of medical genetics, 1997-08, Vol.34 (8), p.672-675

1997

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Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)

Genetic counseling, 2007-01, Vol.18 (3), p.349

2007

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Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

Vision research (Oxford), 1998-12, Vol.38 (24), p.3829-3831

1998

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Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele

Atherosclerosis, 1997-12, Vol.135 (2), p.181-185

1997

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A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family

Genetic counseling, 2005, Vol.16 (2), p.149

2005

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Does electrophoresis reliably screen for high serum lipoprotein Lp(a)?

Clinica chimica acta, 1990-04, Vol.188 (1), p.71-77

1990

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The ε4 allele of the Apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration

American journal of ophthalmology, 1998, Vol.125 (3), p.353-359

1998

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A new informative Alw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis. Mutations in brief no. 145. Online

Human mutation, 1998, Vol.11 (6), p.483-483

1998

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Functional interaction between −629C/A, −971G/A and −1337C/T polymorphisms in the CETP gene is a major determinant of promoter activity and plasma CETP concentration in the REGRESS Study

Human molecular genetics, 2005-09, Vol.14 (18), p.2607-2618

2005

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Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100

Human mutation, 1996, Vol.7 (4), p.340-345

1996

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Relation between magnetic properties and crystallographic texture of columnar Alnico 8 permanent magnets

IEEE transactions on magnetics, 1978-09, Vol.14 (5), p.797-799

1978

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A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene

Fertility and sterility, 2003-02, Vol.79 (2), p.442-444

2003

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Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

Fertility and sterility, 2002-06, Vol.77 (6), p.1288-1291

2002

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Importance, mechanisms and limitations of the distant bystander effect in cancer gene therapy of experimental liver tumors

Cancer letters, 2002-05, Vol.179 (1), p.59-69

2002

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Tremblementessentiel et gène du récepteur de la dopamine

Revue francophone des laboratoires, 2006, Vol.2006 (384), p.14-14

2006

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Pseudo-hypertriglycéridémie par déficit en glycérol kinase

La revue de medecine interne, 1989, Vol.10 (5), p.453-456

1989

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Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families

Activating mutations of the calcium-sensing receptor : Management of hypocalcemia

A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia

Tissue-specific pattern of variant transcripts of the human gonadotropin-releasing hormone receptor gene

High Frequency of the Apolipoprotein E 4 Allele in African Pygmies and Most of the African Populations in Sub-Saharan Africa

Selection of the same mutation in the U69 protein kinase gene of human herpesvirus-6 after prolonged exposure to ganciclovir in vitro and in vivo

Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients

The GnRH receptor gene is preferentially expressed in functioning gonadotroph adenomas and displays a Mae III polymorphism site

A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism : Chronic estrogen administration amplifies the gonadotropin defect

Assessment of French patients with LPL deficiency for French Canadian mutations

Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)

Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele

A new mutation of the noggin gene in a French Fibrodysplasia ossificans progressiva (FOP) family

Does electrophoresis reliably screen for high serum lipoprotein Lp(a)?

The ε4 allele of the Apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration

A new informative Alw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis. Mutations in brief no. 145. Online

Functional interaction between −629C/A, −971G/A and −1337C/T polymorphisms in the CETP gene is a major determinant of promoter activity and plasma CETP concentration in the REGRESS Study

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100

Relation between magnetic properties and crystallographic texture of columnar Alnico 8 permanent magnets

A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene

Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

Importance, mechanisms and limitations of the distant bystander effect in cancer gene therapy of experimental liver tumors

Tremblementessentiel et gène du récepteur de la dopamine

Pseudo-hypertriglycéridémie par déficit en glycérol kinase

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