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Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

Clinical genetics, 2017-12, Vol.92 (6), p.606-615

2017

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AVALIAÇÃO CLÍNICA E MOLECULAR DE PACIENTES COM ERITROCITOSE

Hematology, Transfusion and Cell Therapy, 2024-10, Vol.46, p.S493-S494

2024

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A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature

La revue de medecine interne, 2020-03, Vol.41 (3), p.196-199

2020

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P1065: CONGENITAL ERYTHROCYTOSIS DUE TO HETEROZYGOUS VARIANTS IN THE BISPHOSPHOGLYCERATE MUTASE GENE

HemaSphere, 2022-06, Vol.6 (Suppl), p.955-956

2022

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Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease

British journal of dermatology (1951), 2010-12, Vol.163 (6), p.1337-1339

2010

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Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Blood, 2018-08, Vol.132 (5), p.469-483

2018

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Raf-1-induced growth arrest in human mammary epithelial cells is p16-independent and is overcome in immortal cells during conversion

Oncogene, 2002-09, Vol.21 (41), p.6328-6339

2002

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Genetics in medicine, 2019-09, Vol.21 (9), p.2025-2035

2019

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Identification of TET1 Partners That Control Its DNA-Demethylating Function

Genes & cancer, 2013-05, Vol.4 (5-6), p.235-241

2013

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Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

Journal of medical genetics, 2011-04, Vol.48 (4), p.226-34

2011

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AVALIAÇÃO CLÍNICA E MOLECULAR DE PACIENTES COM ERITROCITOSE

Hematology, Transfusion and Cell Therapy, 2024-10, Vol.46, p.S493-S494

2024

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Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

Haematologica (Roma), 2012-01, Vol.97 (1), p.9-14

2012

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Polyglobulie rare par mutation du gène EGLN1 : à propos d’un cas et revue de la littérature

La revue de medecine interne, 2020-03, Vol.41 (3), p.196-199

2020

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Von Hippel Lindau (VHL) : classification de 187 variants du gène VHL par les 9 laboratoires français du groupe TENGEN (réseau oncogénétique des tumeurs neuroendocrines)

Annales d'endocrinologie, 2021-10, Vol.82 (5), p.272-273

2021

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A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

Haematologica (Roma), 2008-07, Vol.93 (7), p.1072-1075

2008

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Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease: Novel FH mutation

British journal of dermatology (1951), 2010-12, Vol.163 (6), p.1337-1339

2010

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Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Nature (London), 2016-03, Vol.531 (7592), p.126-126

2016

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No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome

Familial cancer, 2010-06, Vol.9 (2), p.245-251

2010

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Disruption of the multiple tumor suppressor gene MTS1/p16(INK4a)/CDKN2 by illegitimate V(D)J recombinase activity in T-cell acute lymphoblastic leukemias

Blood, 1997-11, Vol.90 (9), p.3720

1997

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Transgenic expression of the p16(INK4a) cyclin-dependent kinase inhibitor leads to enhanced apoptosis and differentiation arrest of CD4-CD8- immature thymocytes

The Journal of immunology (1950), 2002-03, Vol.168 (5), p.2325-2331

2002

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Transgenic Expression of the p16 super(INK4a) Cyclin-Dependent Kinase Inhibitor Leads to Enhanced Apoptosis and Differentiation Arrest of CD4 super(- )CD8 super(-) Immature Thymocytes

The Journal of immunology (1950), 2002-03, Vol.168 (5), p.2325-2331

2002

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Disruption of the multiple tumor suppressor gene MTS1/p16INK4/CDKN2 by illegitimate V(D)J recombinase activity in T-cell acute lymphoblastic leukemias

Blood, 1997, Vol.90 (9), p.3720-3726

1997

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Genomic Alterations of the p19ARF Encoding Exons in T-Cell Acute Lymphoblastic Leukemia

Blood, 1998-02, Vol.91 (3), p.1016-1020

1998

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Anomalies des gênes contrôlant la phrase G1 du cycle cellulaire dans les tumeurs humaines

Hématologie (Montrouge), 1997, Vol.3 (4), p.319-323

1997

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Inactivation du gène MTS1 (Multiple Tumor Suppressor 1)/CDKN2 dans les hémopathies malignes

Hématologie (Montrouge), 1997, Vol.3 (2), p.21-24

1997

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Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers

AVALIAÇÃO CLÍNICA E MOLECULAR DE PACIENTES COM ERITROCITOSE

A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature

P1065: CONGENITAL ERYTHROCYTOSIS DUE TO HETEROZYGOUS VARIANTS IN THE BISPHOSPHOGLYCERATE MUTASE GENE

Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Raf-1-induced growth arrest in human mammary epithelial cells is p16-independent and is overcome in immortal cells during conversion

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Identification of TET1 Partners That Control Its DNA-Demethylating Function

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

AVALIAÇÃO CLÍNICA E MOLECULAR DE PACIENTES COM ERITROCITOSE

Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia

Polyglobulie rare par mutation du gène EGLN1 : à propos d’un cas et revue de la littérature

Von Hippel Lindau (VHL) : classification de 187 variants du gène VHL par les 9 laboratoires français du groupe TENGEN (réseau oncogénétique des tumeurs neuroendocrines)

A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease: Novel FH mutation

Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome

Disruption of the multiple tumor suppressor gene MTS1/p16(INK4a)/CDKN2 by illegitimate V(D)J recombinase activity in T-cell acute lymphoblastic leukemias

Transgenic expression of the p16(INK4a) cyclin-dependent kinase inhibitor leads to enhanced apoptosis and differentiation arrest of CD4-CD8- immature thymocytes

Transgenic Expression of the p16 super(INK4a) Cyclin-Dependent Kinase Inhibitor Leads to Enhanced Apoptosis and Differentiation Arrest of CD4 super(- )CD8 super(-) Immature Thymocytes

Disruption of the multiple tumor suppressor gene MTS1/p16INK4/CDKN2 by illegitimate V(D)J recombinase activity in T-cell acute lymphoblastic leukemias

Genomic Alterations of the p19ARF Encoding Exons in T-Cell Acute Lymphoblastic Leukemia

Anomalies des gênes contrôlant la phrase G1 du cycle cellulaire dans les tumeurs humaines

Inactivation du gène MTS1 (Multiple Tumor Suppressor 1)/CDKN2 dans les hémopathies malignes

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