UB Paderborn / Katalog / Suche / in CDI

Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1

Clinical endocrinology (Oxford), 2017-03, Vol.86 (3), p.332-339

2017

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A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL

The journal of clinical endocrinology and metabolism, 2016-12, Vol.101 (12), p.4710-4718

2016

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ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia

European journal of endocrinology, 2016-01, Vol.174 (1), p.85

2016

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First case report of an adrenocortical carcinoma caused by a BRCA2 mutation

Medicine (Baltimore), 2016-09, Vol.95 (36), p.e4756-e4756

2016

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Intron-exon structure of the MET gene and cloning of an alternatively-spliced Met isoform reveals frequent exon-skipping of a single large internal exon

Oncogene, 1998-02, Vol.16 (7), p.833-842

1998

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MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate

Journal of the Endocrine Society, 2020-05, Vol.4 (Supplement_1)

2020

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SUN-373 Small Adrenal Incidentaloma Stable in Size Becoming a Stage IV Adrenocortical Carcinoma 10 Years Later in a Young Patient Carrying a Germline APC Variant of Uncertain Significance (VUS)

Journal of the Endocrine Society, 2019-04, Vol.3 (Supplement_1)

2019

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The BRCA2 c.9004GA (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

Breast cancer research and treatment, 2012-01, Vol.131 (1), p.333

2012

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Erratum to: the BRCA2 c.9004GA

Breast cancer research and treatment, 2012-01, Vol.131 (1), p.341

2012

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Erratum to: the BRCA2 c.9004GA variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

Breast cancer research and treatment, 2012-01, Vol.131 (1), p.341

2012

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The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

Breast cancer research and treatment, 2012, Vol.131 (1), p.333-340

2012

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Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer

Familial cancer, 2010-12, Vol.9 (4), p.507-517

2010

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Erratum to: The BRCA2 c.9004G>A (E3002K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

Breast cancer research and treatment, 2012, Vol.131 (1), p.341-341

2012

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Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

American journal of medical genetics. Part A, 2008-11, Vol.146A (22), p.2937-2943

2008

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Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET

Journal of medical genetics, 2001-11, Vol.38 (11), p.784-787

2001

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Molecular characterization of a pediatric pheochromocytoma with suspected bilateral disease

The Journal of pediatrics, 2001-02, Vol.138 (2), p.269-273

2001

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Structure et expression du gene d'une proteine prostatique de 94 acides amines (PSP(94))

Nolet, Serge

1991

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Rapid evolution of prostatic protein PSP94 suggested by sequence divergence between rhesus monkey and human cDNAs

Genomics (San Diego, Calif.), 1991-04, Vol.9 (4), p.775-777

1991

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Optimisation des méthodes d'analyse et de séquence manuelle des peptides et leurs applications à la dynorphine immunoréactive isolée de la médullo-surrénale de boeuf

Nolet, Serge

1985

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Rapid evolution of prostatic protein PSP 94 suggested by sequence divergence between rhesus monkey and human cDNAs

Genomics (San Diego, Calif.), 1991, Vol.9 (4), p.775-777

1991

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Prostatic secretory protein PSP94 : gene organization and promoter sequence in Rhesus monkey and human

Biochimica et biophysica acta, 1991-06, Vol.1089 (2), p.247-249

1991

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Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

American Journal of Medical Genetics Part A, 2008, Vol.146A (22), p.2937-2943

2008

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Molecular cloning and sequence of the cDNA for a 94-amino-acid seminal plasma protein secreted by the human prostate

DNA (New York, N.Y.), 1987-02, Vol.6 (1), p.23-29

1987

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Prostatic secretory protein PSP 94: gene organization and promoter sequence in Rhesus monkey and human

Biochimica et biophysica acta. Gene structure and expression, 1991, Vol.1089 (2), p.247-249

1991

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Sensitive method of detection, quantitation and purification of peptides using pre-column derivatization with phenyl isothiocyanate

Journal of chromatography, 1988, Vol.425 (1), p.77-86

1988

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Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1

A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL

ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia

First case report of an adrenocortical carcinoma caused by a BRCA2 mutation

Intron-exon structure of the MET gene and cloning of an alternatively-spliced Met isoform reveals frequent exon-skipping of a single large internal exon

MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate

SUN-373 Small Adrenal Incidentaloma Stable in Size Becoming a Stage IV Adrenocortical Carcinoma 10 Years Later in a Young Patient Carrying a Germline APC Variant of Uncertain Significance (VUS)

The BRCA2 c.9004GA (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

Erratum to: the BRCA2 c.9004GA

Erratum to: the BRCA2 c.9004GA variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer

Erratum to: The BRCA2 c.9004G>A (E3002K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET

Molecular characterization of a pediatric pheochromocytoma with suspected bilateral disease

Structure et expression du gene d'une proteine prostatique de 94 acides amines (PSP(94))

Rapid evolution of prostatic protein PSP94 suggested by sequence divergence between rhesus monkey and human cDNAs

Optimisation des méthodes d'analyse et de séquence manuelle des peptides et leurs applications à la dynorphine immunoréactive isolée de la médullo-surrénale de boeuf

Rapid evolution of prostatic protein PSP 94 suggested by sequence divergence between rhesus monkey and human cDNAs

Prostatic secretory protein PSP94 : gene organization and promoter sequence in Rhesus monkey and human

Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities

Molecular cloning and sequence of the cDNA for a 94-amino-acid seminal plasma protein secreted by the human prostate

Prostatic secretory protein PSP 94: gene organization and promoter sequence in Rhesus monkey and human

Sensitive method of detection, quantitation and purification of peptides using pre-column derivatization with phenyl isothiocyanate

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