Genomes and Genes
- New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutationDenis Pierron
1Université Bordeaux 1, Laboratoire d Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 Talence, France
BMC Med Genet 9:41. 2008....
- Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia RegisterChristine Bellanne-Chantelot
Hopital Saint Antoine, Laboratoire de d Embryologie Pathologique et de Cytogénétique, 184 rue du Fbg Saint Antoine, 75012 Paris, France
Blood 103:4119-25. 2004....
- Clinical spectrum associated with hepatocyte nuclear factor-1beta mutationsChristine Bellanne-Chantelot
Fédération des Services de Biochimie, Laboratoire de Biologie Moleculaire, Hopital Saint Antoine, Paris, France
Ann Intern Med 140:510-7. 2004..Various phenotypes, including urogenital malformations, are related to HNF-1beta mutations...
- Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5Christine Bellanne-Chantelot
Department of Cytogenetics and Molecular Biology, Hopital Saint Antoine, Assistance Publique Hopitaux de Paris, Paris, France
Diabetes 54:3126-32. 2005..In addition, other MODY genes should be screened for large genomic rearrangements...
- Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disordersChristine Bellanne-Chantelot
Assistance Publique Hôpitaux de Paris AP HP Saint Antoine, Department of Cytogenetics, Paris, France
Blood 108:346-52. 2006..The analysis of the hematologic profile showed that the homozygous JAK2 mutation confers a proliferative advantage and is associated with the progression of the hematologic disease...
- Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutationsGaëlle Roques
Service d hémato oncologie pédiatrique, APHP Hopital Trousseau, Paris, France Service de Pédiatrie, CHU de Reims, Reims, France
Pediatr Blood Cancer 61:1041-8. 2014..To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in France...
- Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomasSandra Rebouissou
INSERM U674, CEPH, IUH Saint Louis, Paris, France
Hum Mol Genet 14:603-14. 2005..Furthermore, we suggest that HNF1beta functions as a tumor suppressor gene in chromophobe renal cell carcinogenesis through a PKHD1 expression control...
- NF1 single and multi-exons copy number variations in neurofibromatosis type 1Apolline Imbard
Service de Biochimie Hormonologie, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris, France
J Hum Genet 60:221-4. 2015..No clear genotype-phenotype correlations were found for the most clinically significant disease features of NF1 in patients with single and multi-exons NF1 gene copy number changes. ..
- The N363S polymorphism in the glucocorticoid receptor gene is associated with overweight in subjects with type 2 diabetes mellitusRonan Roussel
Service d immunologie clinique, Hopital Necker Enfants Malades, Paris, France
Clin Endocrinol (Oxf) 59:237-41. 2003..Here, we investigated the impact of this variant on traits related to obesity and hyperglycaemia in subjects with type 2 diabetes mellitus...
- Diagnosis and management of maturity-onset diabetes of the youngJose Timsit
Department of Immunology and Diabetology, Hopital Cochin, Paris, France
Treat Endocrinol 4:9-18. 2005..Thus, the diagnosis of MODY should be raised in various clinical circumstances. Molecular diagnosis has important consequences in terms of prognosis, family screening, and therapy...
- A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetesAndre F Reis
INSERM Unit 561, Hopital Saint Vincent de Paul, Paris, France
Mol Genet Metab 82:339-44. 2004..The implications of this effect in the evolution of type 2 diabetes and its macrovascular complications deserve to be investigated...
- Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study GroupJean Donadieu
Service d hémato oncologie pédiatrique, Hopital Trousseau, Paris, France
Haematologica 90:45-53. 2005..Granulocyte colony-stimulating factor (G-CSF) therapy has significantly reduced the frequency and severity of infections, but its possible influence on the risk of malignancy is not known...
- Coexistence in the same family of both focal and diffuse forms of hyperinsulinismVassili Valayannopoulos
Department of Metabolic Disorders, Hopital Necker Enfants Malades, Paris, France
Diabetes Care 30:1590-2. 2007
- Epidemiology of congenital neutropeniaJean Donadieu
Service d Hémato Oncologie Pédiatrique Registre des neutropénies congénitales, Assistance Publique Hopitaux de Paris, Hopital Trousseau 26 Avenue du Dr Netter, Paris F 75012, France
Hematol Oncol Clin North Am 27:1-17, vii. 2013..The rate of infection and leukemia risk can now be calculated. Risk factors for leukemia seem to depend on both the genetic background and cumulative dose of granulocyte colony stimulating factor...
- [Granulopoeisis and leukemogenesis: lessons from congenital neutropenia]Jean Donadieu
Service d hémato oncologie pédiatrique, Registre français des neutropénies congénitales, Hopital Trousseau, 26 avenue du Docteur Arnold Netter, 75012 Paris, France
Med Sci (Paris) 24:284-9. 2008..Leukemia risk does not appear to be related to an oncogenic effect of ELA2 mutations, but much likely to the deepness of the neutropenia, and the intensity of G-CSF therapy...
- Association of CYP1B1 germ line mutations with hepatocyte nuclear factor 1alpha-mutated hepatocellular adenomaEmmanuelle Jeannot
INSERM, U674, Génomique fonctionnelle des tumeurs solides, Paris, France
Cancer Res 67:2611-6. 2007..In conclusion, our data suggested that CYP1B1 germ line-inactivating mutations might increase the incidence of HCA in women with HNF1alpha mutations...
- Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complicationsSandra Malak
Department of Hematology, Assistance Publique Hôpitaux de Paris AP HP Saint Antoine, Universite Pierre et Marie Curie, Paris, France
Blood Cells Mol Dis 49:170-6. 2012..Finally whereas patients with familial PV and ET have a comparable prognosis to non-familial MPN, the JAK2(V617F) mutation was associated with a more frequent occurrence of thrombosis in the entire population...
- Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndromeJean Donadieu
AP HP Registre Français des Neutropénies Congénitales, Hopital Trousseau, Service d hémato oncologie pédiatrique, APHP, Paris, France
Haematologica 97:1312-9. 2012..The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications...
- Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretionM Mar González-Barroso
Université Paris Descartes Site Necker enfants Malades, CNRS UPR 9078 BIOTRAM, Paris, France
PLoS ONE 3:e3850. 2008..Our results show for the first time a direct association between UCP2 amino acid alteration and human disease and highlight a role for mitochondria in hormone secretion...
- Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasmsCécile Saint-Martin
Department of Genetics, Assistance Publique Hopitaux de Paris AP HP Groupe Hospitalier Pitié Salpétrière, Universite Pierre et Marie Curie, Paris, France
Blood 114:1628-32. 2009..TET2 mutations were mainly observed (10 of 12) in patients with primary myelofibrosis or patients with polycythemia vera or essential thrombocythemia who secondarily evolved toward myelofibrosis or acute myeloid leukemia...
- Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneysStephane Decramer
INSERM, U858, BP 84225, F 3142, Paris, France
J Am Soc Nephrol 18:923-33. 2007..Extrarenal manifestations are frequent in TCF2-linked pathologies. Therefore, prenatal counseling and follow-up should be multidisciplinary...
- Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohortTim Ulinski
Department of Pediatric Nephrology, AP HP, Hopital Armand Trousseau, 26 Avenue du Docteur Netter, Paris 75571, France
J Am Soc Nephrol 17:497-503. 2006..These findings have important implications in the diagnosis of patients with renal dysplasia with cysts and their follow-up...
- Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutationsGaetan Lebrun
Universite Paris Descartes, Faculte de Medecine, AP HP, Hopital Necker Enfants Malades, Paris, France
Nat Clin Pract Nephrol 1:115-9. 2005..One of the proband's two sons had hyperechogenic kidneys and the other had renal cortical microcysts. Her 71-year-old mother had mild renal failure and small renal cysts...
- Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2Nadia Bahi-Buisson
Department of Paediatric Neurology and Metabolic Disease, Hopital Necker Enfants Malades, Paris, France
J Child Neurol 22:1147-50. 2007..However, the child still exhibited severe encephalopathy and died of aspiration pneumonia. The role of oral sulfonylurea as an anticonvulsant in DEND syndrome associated with Kir6.2 mutation is discussed...
- Congenital hyperinsulinism: current trends in diagnosis and therapyJean Baptiste Arnoux
Centre de Référence des Maladies Héréditaires du Métabolisme de l Enfant et l Adulte, AP HP Hôpital Necker Enfants Malades, Universite Paris Descartes, Paris, France
Orphanet J Rare Dis 6:63. 2011..By contrast, the long-term outcome of diffuse HI after subtotal pancreatectomy is characterized by a high risk of diabetes, but the time of its onset is hardly predictable...
- KATP channel mutations in congenital hyperinsulinismCécile Saint-Martin
Department of Genetics, AP HP Hopital Pitie Salpetriere, Universite Pierre et Marie Curie, Paris, France
Semin Pediatr Surg 20:18-22. 2011..Some patients with diffuse forms also carried a single K(ATP) channel mutation. In contrast, K(ATP) mutations are involved in 15% of diazoxide-responsive CHI cases that are either sporadic or dominantly inherited...
- Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A geneChristine Bellanne-Chantelot
Department of Genetics, Assistance Publique Hopitaux de Paris, Pitie Salpetriere Hospital, University Pierre et Marie Curie Paris 6, 75013 Paris, France
J Clin Endocrinol Metab 96:E1346-51. 2011..The diagnosis of maturity-onset diabetes of the young type 3 (MODY3), associated with HNF1A molecular abnormalities, is often missed...
- NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experienceAudrey Sabbagh
UMR745 INSERM, PRES Sorbonne Paris Cité, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France IRD, UMR216, Mère et Enfant Face aux Infections Tropicales, Paris, France PRES Sorbonne Paris Cité, Universite Paris Descartes, Faculte des Sciences Pharmaceutiques et Biologiques, Paris, France
Hum Mutat 34:1510-8. 2013..The association analysis of these mutation types with 12 common NF1 clinical features confirmed a weak contribution of the allelic heterogeneity of the NF1 mutation to the NF1 variable expressivity. ..
- Childhood onset diabetes posttransplant in a girl with TCF2 mutationElena Tudorache
Department of Pediatric Nephrology, Armand Trousseau Hospital, AP HP, Paris, France University Pierre et Marie Curie UPMC, Paris, 6, France
Pediatr Diabetes 13:e35-9. 2012..TCF2 analysis might, therefore, be of interest in patients with congenital abnormalities of the kidney and the urinary tract in order to improve posttransplant management in terms of steroid and tacrolimus exposure...
- Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletionChantal Loirat
Department of Pediatric Nephrology, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Universite Paris Diderot, Paris, France
Nephrol Dial Transplant 25:3430-3. 2010..We report autism in 3 out of 53 children with cystic or hyperechogenic kidneys and heterozygous 17q12 region deletion encompassing hepatocyte nuclear factor-1beta (HNF1B)...
- Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2)Delphine Martin
Department of Pediatric Diabetology, AP HP Hôpital Necker Enfants Malades, Paris, France
Diabetes Care 31:1321-3. 2008..We investigated the natural history of glucokinase (GCK)-related maturity-onset diabetes of the young type 2 (MODY2), notably the factors associated with deterioration of hyperglycemia over time...