C. Bellanné-Chantelot

发表

NF1 single and multi-exons copy number variations in neurofibromatosis type 1

H. Blanché, E. Pasmant, A. Sabbagh, 2015, Journal of Human Genetics.

NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience

H. Blanché, E. Pasmant, A. Sabbagh, 2013, Human mutation.

Pulmonary Hypertension in Patients With Neurofibromatosis Type I

M. Humbert, C. Marquette, G. Zalcman, 2011, Medicine.

Continuum of overlapping clones spanning the entire human chromosome 21q

X. Estivill, D. Cox, J. Weissenbach, 1992, Nature.

Mapping the whole human genome by fingerprinting yeast artificial chromosomes

D. Paslier, D. Ward, E. Barillot, 1992, Cell.

The Type and the Position of HNF1A Mutation Modulate Age at Diagnosis of Diabetes in Patients with Maturity-Onset Diabetes of the Young (MODY)-3

C. Bellanné-Chantelot, G. Velho, J. Timsit, 2008, Diabetes.

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)

P. Froguel, C. Bellanné-Chantelot, G. Velho, 2008, Diabetes Care.

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

Yves, C. Sempoux, M. Ribeiro, 2010, Journal of Medical Genetics.

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

R. Scharfmann, R. Sladek, P. Froguel, 2010, PloS one.

A YAC contig map of the human genome.

P. Rigault, A. Billault, C. Bellanné-Chantelot, 1995, Nature.

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.

C. Pecquet, E. Solary, W. Vainchenker, 2013, Blood.

Congenital hyperinsulinism: current trends in diagnosis and therapy

F. Brunelle, C. Bellanné-Chantelot, Y. Aigrain, 2011, Orphanet journal of rare diseases.

Proliferative retinopathy in patients with type 1 diabetes of less than 5 years' duration.

C. Bellanné-Chantelot, B. Bouhanick, J. Ebran, 2002, Diabetes & metabolism.

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

P. Rohrlich, E. W. Van Den Neste, C. Ferrand, 2013, Blood.

- to: Lindner T, Cockburn BN, Bell GI (1999) Molecular genetics of MODY in Germany. Diabetologia 42: 121–123

A. Pfeiffer, C. Bellanné-Chantelot, F. Ziemssen, 2002, Diabetologia.

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

D. Constam, C. Bellanné-Chantelot, A. Grapin-Botton, 2012, Human mutation.

Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms.

W. Vainchenker, A. Delannoy, O. Bernard, 2009, Blood.

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

Charles Boone, M. Costanzo, S. Freund, 2011, Genes & development.

Cohen syndrome is associated with major glycosylation defects.

E. Solary, J. Rivière, J. Thevenon, 2014, Human molecular genetics.

Chronic neutropenia: how best to assess severity and approach management?

C. Klein, C. Bellanné-Chantelot, J. Donadieu, 2021, Expert review of hematology.

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia

A. Schäffer, E. Gertz, G. Superti-Furga, 2014, Nature Genetics.

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features

A. Hattersley, S. Ellard, A. Gloyn, 2006, European Journal of Human Genetics.

Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys.

J. Schanstra, C. Bellanné-Chantelot, S. Beaufils, 2007, Journal of the American Society of Nephrology : JASN.

Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1β) mutations

Y. Chrétien, C. Bellanné-Chantelot, J. Grünfeld, 2005, Nature Clinical Practice Nephrology.

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.

I. Talianidis, C. Bellanné-Chantelot, S. Cereghini, 2004, Human molecular genetics.

Lymphoid differentiation of hematopoietic stem cells requires efficient Cxcr4 desensitization

C. Bellanné-Chantelot, M. Espéli, Y. Bertrand, 2017, The Journal of experimental medicine.

Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis

W. Vainchenker, C. Bellanné-Chantelot, I. Plo, 2017, Front. Endocrinol..

Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications.

M. Labopin, C. Bellanné-Chantelot, C. Saint-Martin, 2012, Blood cells, molecules & diseases.

Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders.

G. Thomas, C. de Toma, W. Vainchenker, 2006, Blood.

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

H. Cavé, P. Rohrlich, E. W. Van Den Neste, 2018, Haematologica.

An inherited gain‐of‐function risk allele in EPOR predisposes to familial JAK2V617F myeloproliferative neoplasms

W. Vainchenker, H. Raslova, E. Deconinck, 2022, British journal of haematology.

Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.

W. Vainchenker, C. Bellanné-Chantelot, I. Plo, 2020, Blood reviews.

The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes.

H. Gin, G. Charpentier, P. Massin, 2009, The Journal of clinical endocrinology and metabolism.

Monogenic diabetes in adults: a multi-ancestry study reveals strong disparities in diagnosis rates and clinical presentation.

C. Bellanné-Chantelot, D. Dubois-Laforgue, J. Timsit, 2022, Diabetes research and clinical practice.

High-sensitivity C-reactive protein does not improve the differential diagnosis of HNF1A-MODY and familial young-onset type 2 diabetes: A grey zone analysis.

J. Coste, C. Bellanné-Chantelot, D. Dubois-Laforgue, 2016, Diabetes & metabolism.

Clinical utility gene card for: Maturity-onset diabetes of the young

S. Ellard, C. Bellanné-Chantelot, J. Timsit, 2014, European Journal of Human Genetics.

Variations in the vitamin D-binding protein (Gc locus) and risk of type 2 diabetes mellitus in French Caucasians.

C. Bellanné-Chantelot, D. Dubois-Laforgue, G. Velho, 2001, Metabolism: clinical and experimental.

Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects

J. Coste, C. Bellanné-Chantelot, J. Timsit, 2017, Diabetes Care.

Response to Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects. Diabetes Care 2017;40:1436–1443

J. Coste, C. Bellanné-Chantelot, J. Timsit, 2017, Diabetes Care.

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

C. Bellanné-Chantelot, S. Beaufils, G. Deschênes, 2006, Journal of the American Society of Nephrology : JASN.

Pectus Excavatum Is Part of the Clinical Spectrum of HNF1B MODY5

C. Bellanné-Chantelot, J. Timsit, D. Dubois-Laforgue, 2014, Diabetes Care.

Exonic Duplication of the Hepatocyte Nuclear Factor-1β Gene (Transcription Factor 2, Hepatic) as a Cause of Maturity Onset Diabetes of the Young Type 5

C. Bellanné-Chantelot, J. Timsit, J. Grünfeld, 2007 .

Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects.

C. Bellanné-Chantelot, D. Dubois-Laforgue, J. Timsit, 2017, Diabetes & metabolism.

The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children

N. Boddaert, F. Brunelle, M. Ribeiro, 2007, European Journal of Nuclear Medicine and Molecular Imaging.

Identification of MPL R102P Mutation in Hereditary Thrombocytosis

W. Vainchenker, R. Favier, C. Bellanné-Chantelot, 2017, Front. Endocrinol..

Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene.

C. Bellanné-Chantelot, J. Timsit, A. Hartemann, 2011, The Journal of clinical endocrinology and metabolism.

Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians

C. Bellanné-Chantelot, G. Velho, J. Timsit, 2000, Human Genetics.

The JAK2V617F mutation may be present several years before the occurrence of overt myeloproliferative disorders

P. Jégo, M. Tulliez, C. Bellanné-Chantelot, 2008, Leukemia.

Mutations in the insulin promoter factor-1 gene in late-onset type 2 diabetes mellitus.

C. Bellanné-Chantelot, D. Dubois-Laforgue, G. Velho, 2000, European journal of endocrinology.

A polymorphism in the promoter of UCP2 gene modulates lipid levels in patients with type 2 diabetes.

C. Bellanné-Chantelot, G. Velho, J. Timsit, 2004, Molecular genetics and metabolism.

Biological behaviors of mutant proinsulin contribute to the phenotypic spectrum of diabetes associated with insulin gene mutations

Ming Liu, P. Arvan, C. Bellanné-Chantelot, 2020, Molecular and Cellular Endocrinology.

Liver adenomatosis in patients with hepatocyte nuclear factor‐1 alpha maturity onset diabetes of the young (HNF1A‐MODY): Clinical, radiological and pathological characteristics in a French series

P. Guillausseau, C. Bellanné-Chantelot, J. Wilhelm, 2019, Journal of diabetes.

Mutation screening in 18 Caucasian families suggest the existence of other MODY genes

P. Boutin, G. Charpentier, P. Froguel, 1998, Diabetologia.

Prevalence of maturity-onset diabetes of the young mutations in Brazilian families with autosomal-dominant early-onset type 2 diabetes.

C. Bellanné-Chantelot, G. Velho, R. Moises, 2001, Diabetes care.

Identification of seven novel nucleotide variants in the hepatocyte nuclear factor‐1α (TCF1) promoter region in MODY patients

P. Boutin, P. Froguel, H. Blanché, 2000, Human mutation.

MODY sub-types in a panel of Spanish families with early onset diabetes mellitus , and to assess phenotypic differences in patients with the different subtypes of MODY . Research design and methods Subjects

P. Froguel, C. Bellanné-Chantelot, G. Velho, 2000 .

KATP channel mutations in congenital hyperinsulinism.

C. Bellanné-Chantelot, P. de Lonlay, C. Saint-Martin, 2011, Seminars in pediatric surgery.

Neonatal hyperinsulinism: clinicopathologic correlation.

M. Polak, F. Brunelle, C. Bellanné-Chantelot, 2007, Human pathology.

In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.

C. Sempoux, C. Bellanné-Chantelot, P. de Lonlay, 2011, The Journal of clinical investigation.

Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.

C. Stanley, C. Sempoux, F. Brunelle, 2004, The Journal of clinical endocrinology and metabolism.

Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.

Cristel G. Thomas, J. Zucman‐Rossi, P. Laurent-Puig, 2005, Human molecular genetics.

Diagnosis of MODY in the Offspring of Parents with Insulin-dependent and Non-insulin-dependent Diabetes Mellitus

I. Testa, C. Bellanné-Chantelot, E. Bartolotta, 2001, Journal of pediatric endocrinology & metabolism : JPEM.

Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.

D. Seidenwurm, M. Polak, N. Boddaert, 2006, Journal of Clinical Endocrinology and Metabolism.

Variants influencing age at diagnosis of HNF1A-MODY

L. Philipson, D. Gašperíková, T. Klupa, 2022, Molecular Medicine.

ELANE neutropenia and solid tumors: Four cases from the French severe chronic neutropenia registry

L. Quéro, T. Leblanc, C. Bellanné-Chantelot, 2021, Pediatric blood & cancer.

Hepatic hemangioendothelioma in an infant with severe congenital neutropenia.

C. Bellanné-Chantelot, A. Sachdeva, Sunila Jain, 2012, Journal of pediatric hematology/oncology.

Efficacy of dupilumab for controlling severe atopic dermatitis with dominant‐negative CARD11 variant

C. Bellanné-Chantelot, M. Bagot, J. Donadieu, 2021, Clinical and experimental dermatology.

Infantile Spasms as an Epileptic Feature of DEND Syndrome Associated With an Activating Mutation in the Potassium Adenosine Triphosphate (ATP) Channel, Kir6.2

C. Bellanné-Chantelot, O. Dulac, C. Chiron, 2007, Journal of child neurology.

High frequency of GATA 2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome , myelodysplasia , and acute myeloid leukemia *

P. Rohrlich, C. Ferrand, C. Bellanné-Chantelot, 2013 .

Register neutropenia: A study of 81 patients from the French Neutropenia Mutations in the ELA2 gene correlate with more severe expression of

T. Leblanc, C. Bellanné-Chantelot, S. Beaufils, 2013 .

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.

É. Oksenhendler, W. Vainchenker, T. Leblanc, 2018, Blood.

Familial young‐onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies

C. Bellanné-Chantelot, D. Dubois-Laforgue, S. Clauin, 2010, Diabetic medicine : a journal of the British Diabetic Association.

The Gly482Ser polymorphism in the peroxisome proliferator-activated receptor-γ coactivator-1 gene is associated with hypertension in type 2 diabetic men

C. Bellanné-Chantelot, D. Dubois-Laforgue, G. Velho, 2004, Diabetologia.

Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction

P. Froguel, M. Polak, M. Vaxillaire, 2009, Diabetologia.

Molecular Mechanisms of Neonatal Hyperinsulinism

C. Sempoux, F. Brunelle, C. Bellanné-Chantelot, 2006, Hormone Research in Paediatrics.

Dominantly inherited hyperinsulinaemic hypoglycaemia

C. Stanley, C. Sempoux, F. Brunelle, 2005, Journal of Inherited Metabolic Disease.

How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: A pilot study from the French Severe Chronic Neutropenia registry

C. Bellanné-Chantelot, Y. Bertrand, J. Donadieu, 2017, Pediatric blood & cancer.

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.

J. Golmard, C. Bellanné-Chantelot, P. Touraine, 2009, The Journal of clinical endocrinology and metabolism.

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.

P. Calvas, N. Chassaing, K. Dahan, 2011, Kidney international.

Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion.

C. Bellanné-Chantelot, D. Chauveau, F. Bouissou, 2007, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations

L. Faivre, C. Bellanné-Chantelot, F. Bachelerie, 2016, Journal of leukocyte biology.

Optimization of nonisotopic PCR-single-strand conformation polymorphism analysis.

H. Blanché, C. Bellanné-Chantelot, C. Valette, 1997, Clinical chemistry.

Leukaemic transformation in a 10‐year‐old girl with SRP54 congenital neutropenia

A. Baruchel, T. Leblanc, C. Bellanné-Chantelot, 2022, British journal of haematology.

Shwachman‐Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review

D. Blaise, C. Bellanné-Chantelot, F. Delhommeau, 2021, Pediatric blood & cancer.

Childhood onset diabetes posttransplant in a girl with TCF2 mutation

C. Bellanné-Chantelot, A. Bensman, T. Ulinski, 2012, Pediatric diabetes.

Familial Focal Congenital Hyperinsulinism

S. Ellard, M. Ribeiro, C. Bellanné-Chantelot, 2010, The Journal of clinical endocrinology and metabolism.

ATG2B/GSKIP in de novo acute myeloid leukemia (AML): high prevalence of germline predisposition in French West Indies

F. Pasquier, W. Vainchenker, C. Bellanné-Chantelot, 2021, Leukemia & lymphoma.

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

M. Gonzalès, C. Bénéteau, S. Blesson, 2016, Prenatal diagnosis.

Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly?

C. Yardin, C. Bellanné-Chantelot, V. Guigonis, 2013, European journal of medical genetics.

Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

S. Ellard, C. Bellanné-Chantelot, A. Hattersley, 2008, Diabetologia.

Novel mutations in CYP21 detected in individuals with hyperandrogenism.

H. Blanché, C. Bellanné-Chantelot, S. Lajic, 2002, The Journal of clinical endocrinology and metabolism.

Post‐COVID‐19 severe neutropenia

C. Bellanné-Chantelot, S. Héritier, J. Donadieu, 2020, Pediatric blood & cancer.

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

J. Casanova, L. F. Jobim, C. Deswarte, 2021, Journal of Clinical Immunology.

Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies

F. Pasquier, E. Solary, W. Vainchenker, 2015, Nature Genetics.

GSKIP (GSK3-beta interaction protein)

C. Bellanné-Chantelot, I. Plo, 2018, Atlas of Genetics and Cytogenetics in Oncology and Haematology.

ATG 2 B ( Autophagy-related 2 B )

C. Bellanné-Chantelot, I. Plo, 2018 .

A syndrome with congenital neutropenia and mutations in G6PC3.

Bodo Grimbacher, Gudrun Brandes, Alejandro A Schäffer, 2009, The New England journal of medicine.

Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis

C. Bellanné-Chantelot, J. Timsit, C. Ciangura, 2019, BMC Medicine.

Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group.

Bertrand Joly, Olivier Hermine, Thierry Lamy, 2005, Haematologica.

The N363S polymorphism in the glucocorticoid receptor gene is associated with overweight in subjects with type 2 diabetes mellitus

R. Roussel, C. Bellanné-Chantelot, G. Velho, 2003, Clinical endocrinology.

Inadequate Cortisol Response to the Tetracosactide (Synacthen®) Test in Non-Classic Congenital Adrenal Hyperplasia: An Exception to the Rule?

M. Polak, G. Pinto, C. Bellanné-Chantelot, 2015, Hormone Research in Paediatrics.

Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

J. Golmard, C. Bellanné-Chantelot, P. Touraine, 2010, The Journal of clinical endocrinology and metabolism.

Unsolved issues related to human mitochondrial diseases.

C. Bellanné-Chantelot, C. Jardel, A. Lombès, 2014, Biochimie.

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

C. Bellanné-Chantelot, J. Donadieu, O. Fenneteau, 2017, British journal of haematology.

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

C. Bellanné-Chantelot, S. Beaufils, J. Donadieu, 2014, Pediatric blood & cancer.

Somatic genetic rescue of a germline ribosome assembly defect

P. Revy, A. Warren, P. Bond, 2021, Nature Communications.

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

P. Revy, A. Warren, C. Bole-Feysot, 2019, Blood.

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.

M. Jadoul, Jacques Young, C. Bellanné-Chantelot, 2005, Diabetes.

New somatic BRAF splicing mutation in Langerhans cell histiocytosis

C. Bellanné-Chantelot, J. Emile, A. Moreau, 2017, Molecular Cancer.

A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation.

C. Bellanné-Chantelot, M. Nicolino, G. Depret, 2012, Diabetes & metabolism.

Update of mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

S. Ellard, L. Harries, A. Gloyn, 2009, Human mutation.

arising in the setting of severe congenital neutropenia Distinct patterns of mutations occurring in de novo AML versus AML

E. Mardis, C. Bloomfield, M. McLellan, 2013 .

Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia.

R. Wilson, E. Mardis, M. Caligiuri, 2007, Blood.

An update on congenital hyperinsulinism: advances in diagnosis and management

C. Bellanné-Chantelot, K. Hussain, Y. Aigrain, 2014 .

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

H. Mefford, E. Eichler, D. Pinkel, 2007, American journal of human genetics.

Tubular proteinuria in patients with HNF1α mutations: HNF1α drives endocytosis in the proximal tubule.

P. Courtoy, M. Pontoglio, S. Garbay, 2016, Kidney international.

Germline hepatocyte nuclear factor 1α and 1β mutations in renal cell carcinomas

Cristel G. Thomas, J. Zucman‐Rossi, P. Laurent-Puig, 2005 .

Diagnosis and Management of Maturity-Onset Diabetes of the Young

C. Bellanné-Chantelot, G. Velho, J. Timsit, 2005, Treatments in endocrinology.

Hepatocyte nuclear factor-1 alpha gene inactivation: cosegregation between liver adenomatosis and diabetes phenotypes in two maturity-onset diabetes of the young (MODY)3 families.

J. Zucman‐Rossi, C. Bellanné-Chantelot, Y. Reznik, 2004, The Journal of clinical endocrinology and metabolism.

the Young (MODY)3 Families Liver Adenomatosis and Diabetes Phenotypes in Two Maturity-Onset Diabetes of Hepatocyte Nuclear Factor-1{alpha} Gene Inactivation: Cosegregation between

J. Zucman‐Rossi, C. Bellanné-Chantelot, Y. Reznik, 2004 .

Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.

C. Bellanné-Chantelot, J. Moreno, C. Mustieles, 2002, The Journal of clinical endocrinology and metabolism.

Congenital hyperinsulinism and mosaic abnormalities of the ploidy

C. Junien, C. Sempoux, F. Brunelle, 2005, Journal of Medical Genetics.

Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region

C. Bellanné-Chantelot, G. Marcelin, J. Robert, 2006, Journal of Medical Genetics.

Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

J. Melki, J. Rivière, J. Thevenon, 2017, American journal of medical genetics. Part A.

Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

S. Ellard, A. Gloyn, N. Beer, 2009, Human mutation.

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.

C. Bellanné-Chantelot, Y. Aigrain, P. de Lonlay, 2008, The Journal of clinical endocrinology and metabolism.

Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

S. Ellard, L. Aguilar-Bryan, T. Laver, 2020, Human mutation.

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

J. Casanova, L. F. Jobim, C. Deswarte, 2021, Journal of Clinical Immunology.

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

Baptiste N. Jaeger, M. Bajénoff, B. Malissen, 2012, The Journal of experimental medicine.

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

T. Leblanc, C. Bellanné-Chantelot, S. Beaufils, 2012, Haematologica.

Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families

P. Froguel, I. Weber, H. Blanché, 1997, Diabetologia.

Genetics of severe congenital neutropenia as a gateway to personalized therapy.

C. Bellanné-Chantelot, J. Donadieu, 2022, Hematology. American Society of Hematology. Education Program.

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion.

C. Bellanné-Chantelot, G. Deschênes, N. Chabane, 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

School level of children carrying a HNF1B variant or a deletion

N. Chassaing, C. Bellanné-Chantelot, F. Broux, 2019, European Journal of Human Genetics.

School level of children carrying a HNF1B variant or a deletion

N. Chassaing, C. Bellanné-Chantelot, F. Broux, 2019, European Journal of Human Genetics.

Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for?

C. Bellanné-Chantelot, J. Timsit, D. Dubois-Laforgue, 2016, Canadian journal of diabetes.

Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience

C. Bellanné-Chantelot, H. François, S. Beaudreuil, 2012, Transplant international : official journal of the European Society for Organ Transplantation.

G. Canaud, C. Bellanné-Chantelot, E. Thervet, 2009, Nature Reviews Nephrology.

Epidemiology of congenital neutropenia.

C. Bellanné-Chantelot, N. Mahlaoui, J. Donadieu, 2013, Hematology/oncology clinics of North America.

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

Fernando Rodrigues-Lima, Mohamed Barkaoui, Christine Chomienne, 2004, Blood.

New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis

F. Pasquier, W. Vainchenker, H. Raslova, 2017, Haematologica.

New Insights into Mechanisms of Erythropoietin Receptor Mutations in Primary Familial and Congenital Polycythemia

F. Pasquier, W. Vainchenker, H. Raslova, 2016 .

Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity

T. Leblanc, C. Bellanné-Chantelot, F. Bachelerie, 2021, Haematologica.

Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism

T. Frebourg, C. Bellanné-Chantelot, S. Shyng, 2021, Human mutation.

Severe chronic primary neutropenia in adults: report on a series of 108 patients.

É. Oksenhendler, P. Moreau, C. Bellanné-Chantelot, 2015, Blood.

Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE‐related neutropenia: a French Severe Chronic Neutropenia Registry study

T. Leblanc, C. Bellanné-Chantelot, S. Blanche, 2021, British journal of haematology.

HSCT may lower leukemia risk in ELANE neutropenia: a before–after study from the French Severe Congenital Neutropenia Registry

C. Bellanné-Chantelot, Y. Bertrand, B. Neven, 2020, Bone Marrow Transplantation.

The position of premature termination codons in the hepatocyte nuclear factor −1 beta gene determines susceptibility to nonsense-mediated decay

S. Ellard, L. Harries, C. Bellanné-Chantelot, 2005, Human Genetics.

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

C. Bellanné-Chantelot, J. Donadieu, I. Plo, 2020, Haematologica.

Update On the Risk of Leukemia in Genetic Subgroups of Congenital Neutropenia (CN): Comparison of Patients with Known Gene Mutations (ELA2, HAX1, WASP, G6PC3, p14).

C. Klein, D. Link, K. Welte, 2009 .

Heterozygous Variants of CLPB are a Cause of Severe Congenital Neutropenia.

D. Spencer, D. Link, A. Locke, 2021, Blood.

Vitamin D receptor gene polymorphisms are associated with obesity in type 2 diabetic subjects with early age of onset.

C. Bellanné-Chantelot, D. Dubois-Laforgue, G. Velho, 2001, European journal of endocrinology.

Successful treatment of congenital hyperinsulinism with long-acting release octreotide.

J. Thalabard, A. Mamoune, C. Bellanné-Chantelot, 2012, European journal of endocrinology.

Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy.

C. Sempoux, C. Bellanné-Chantelot, Y. Aigrain, 2011, The Journal of clinical endocrinology and metabolism.

Intermittent chronic neutropenia in a patient with familial Mediterranean fever

F. Ailal, C. Bellanné-Chantelot, J. Donadieu, 2008, Pediatric blood & cancer.

Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms

F. Pasquier, J. Bourhis, C. Deswarte, 2021, Leukemia.

New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

M. Crouzet, M. Martin-Négrier, P. Reynier, 2008, BMC Medical Genetics.

Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity‐Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

S. Ellard, C. Bellanné-Chantelot, S. Flanagan, 2013, Human mutation.

Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients.

W. Vainchenker, N. Debili, R. Favier, 2016, Blood.

Two cases of disseminated Mycobacterium avium infection associated with a new immunodeficiency syndrome related to CXCR4 dysfunctions.

C. Bellanné-Chantelot, F. Bachelerie, S. de Guibert, 2011, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY

M. Weedon, A. Hattersley, S. Ellard, 2018, Diabetes.

Heterogeneity of diabetes phenotype in patients with 3243 bp mutation of mitochondrial DNA (Maternally Inherited Diabetes and Deafness or MIDD).

H. Gin, G. Charpentier, P. Massin, 2004, Diabetes & metabolism.

35th Annual meeting of the European Association for the Study of Diabetes. Brussels, Belgium, 28 September-2 October, 1999. Abstracts.

Thomas J. Smith, B. M. Rasmussen, V. C. Phan, 1999, Diabetologia.

Association of CYP1B1 germ line mutations with hepatocyte nuclear factor 1alpha-mutated hepatocellular adenoma.

C. de Toma, J. Zucman‐Rossi, P. Laurent-Puig, 2007, Cancer research.

Strengths and limitations of using 18fluorine-fluorodihydroxyphenylalanine PET/CT for congenital hyperinsulinism

M. Ribeiro, J. Talbot, C. Bellanné-Chantelot, 2014, Expert review of endocrinology & metabolism.

Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy.

N. Boddaert, F. Brunelle, M. Ribeiro, 2007, Endocrine development.

The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.

C. Sempoux, N. Boddaert, F. Brunelle, 2006, The Journal of clinical endocrinology and metabolism.

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges

C. Bellanné-Chantelot, J. Timsit, C. Ciangura, 2022, Frontiers in Endocrinology.

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy.

C. Bellanné-Chantelot, J. Bariéty, D. Nochy, 2000, Kidney international.

Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:

G. d’Annunzio, R. Lorini, F. Cerutti, 2009, Diabetes Care.

Monoallelic ABCC8 mutations are a common cause of diazoxide‐unresponsive diffuse form of congenital hyperinsulinism

C. Bellanné-Chantelot, S. Shyng, P. de Lonlay, 2015, Clinical genetics.

Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes

C. Junien, C. Bellanné-Chantelot, C. Bouvattier, 2002, Journal of medical genetics.

Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations.

Y. Chrétien, C. Bellanné-Chantelot, J. Grünfeld, 2005, Nature clinical practice. Nephrology.

Update of variants identified in the pancreatic β-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

S. Ellard, L. Aguilar-Bryan, T. Laver, 2020, Yearbook of Paediatric Endocrinology.

In Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy

S. Ellard, Raoul Rooman, P. Clayton, 2011, Diabetes.

Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.

M. Polak, H. Cavé, M. Vaxillaire, 2009, Diabetes & metabolism.

AUTHOR QUERY SHEET

Mariana C. Moreira, Flavia Balbo Piazzon, F. Carvalho, 2012 .

New somatic BRAF splicing mutation in Langerhans cell histiocytosis

C. Bellanné-Chantelot, J. Emile, A. Moreau, 2017, Molecular Cancer.

Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case–control study

H. Gin, G. Charpentier, P. Massin, 2008, Diabetologia.

Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency

C. Bellanné-Chantelot, P. Touraine, V. Tardy, 2022, Clinical endocrinology.

Mutations in UCP2 in Congenital Hyperinsulinism Reveal a Role for Regulation of Insulin Secretion

C. Bellanné-Chantelot, P. de Lonlay, L. Hubert, 2008, PloS one.

Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. A report from the French neutropenia register

T. Leblanc, C. Bellanné-Chantelot, B. Bader-Meunier, 2004, Leukemia.

Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families.

P. Froguel, C. Bellanné-Chantelot, G. Velho, 2000, European journal of endocrinology.

[Congenital hyperinsulinism in newborn and infant].

N. Boddaert, F. Brunelle, M. Ribeiro, 2005, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Somatic genetic alterations predict hematological progression in GATA2 deficiency

C. Bellanné-Chantelot, F. Delhommeau, I. Luquet, 2023, Haematologica.

Extent of hematopoietic involvement by TET2 mutations in JAK2V617F polycythemia vera

C. Bellanné-Chantelot, F. Delhommeau, J. Prchal, 2011, Haematologica.

[MODY, a model of genotype/phenotype interactions in type 2 diabetes].

C. Bellanné-Chantelot, G. Velho, J. Timsit, 2003, Medecine sciences : M/S.

Neonatal Cholestatic Jaundice as the First Symptom of a Mutation in the Hepatocyte Nuclear Factor-1β gene (HNF-1β)

C. Bellanné-Chantelot, M. Maes, D. Beckers, 2007 .

Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).

C. Bellanné-Chantelot, M. Maes, D. Beckers, 2007, The Journal of pediatrics.

Hyperinsulinemic hypoglycemia without insulinoma: Think of activating glucokinase mutation.

F. Pasquier, C. Bellanné-Chantelot, M. Vantyghem, 2018, Presse medicale.

Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey.

J. Lethor, F. Gottrand, C. Bellanné-Chantelot, 2013, International journal of cardiology.

[278] ASSOCIATION OF CYP1B1 GERMLINE MUTATIONS WITH HNF1a MUTATED HEPATOCELLULAR ADENOMA

J. Zucman‐Rossi, P. Laurent-Puig, J. Scoazec, 2007 .

ATG2B and GSKIP: 2 new genes predisposing to myeloid malignancies

W. Vainchenker, C. Bellanné-Chantelot, I. Plo, 2016, Molecular & cellular oncology.

Diagnosis of Non-Autoimmune Paediatric Diabetes by Targeted Next Generation Sequencing (NGS): Findings in Two Families with Rare Mono- and Digenic forms of Diabetes

C. Bellanné-Chantelot, J. Carel, N. Tubiana-Rufi, 2016 .

Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays

C. Bellanné-Chantelot, A. Blondel, C. Saint-Martin, 2023, Human Mutation.

Comparison of performances of various HbA1c methods in Haemoglobin Camperdown variant detection: consequences in diabetes management.

C. Bellanné-Chantelot, H. Portugal, A. Nicolay, 2009, Clinica chimica acta; international journal of clinical chemistry.