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Loss-of-function mutation in GATA4 causes anomalies of human testicular development

Proceedings of the National Academy of Sciences - PNAS, 2011-01, Vol.108 (4), p.1597-1602

2011

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Pitfalls in the diagnosis and management of obstructive uterovaginal duplication: a series of 32 cases

Pediatrics (Evanston), 2008-10, Vol.122 (4), p.e891-e897

2008

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

The Journal of clinical investigation, 2011-10, Vol.121 (10), p.3932-3942

2011

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Congenital Hyperinsulinism: Pancreatic [18F]Fluoro-l-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion

The journal of clinical endocrinology and metabolism, 2006-03, Vol.91 (3), p.933-940

2006

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Congenital hyperinsulinism

Early human development, 2010-05, Vol.86 (5), p.287-294

2010

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Outcome of suprarenal localized masses diagnosed during the perinatal period: A retrospective multicenter study

Cancer, 2002-05, Vol.94 (9), p.2474-2480

2002

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Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Hormone research, 2007-01, Vol.67 (6), p.268-276

2007

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

European journal of nuclear medicine and molecular imaging, 2007-12, Vol.34 (12), p.2120-2128

2007

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Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism

Diabetes care, 2012-02, Vol.35 (2), p.198-203

2012

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Long-Term Surgical Results and Patient Satisfaction With Male Pseudohermaphroditism or True Hermaphroditism: A Cohort of 63 Patients

The Journal of urology, 2006-05, Vol.175 (5), p.1878-1884

2006

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Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

European journal of pediatrics, 2002-10, Vol.161 (1), p.37-48

2002

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Surgical management of the intersex patient: an overview in 2003

Journal of pediatric surgery, 2004-02, Vol.39 (2), p.144-145

Nihoul-Fékété, Claire

2004

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Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

Fertility and sterility, 2015-05, Vol.103 (5), p.1297-1304

2015

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Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

PloS one, 2011-10, Vol.6 (10), p.e24117-e24117

2011

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Aetiological diagnosis of male sex ambiguity: a collaborative study

European journal of pediatrics, 2002-01, Vol.161 (1), p.49-59

2002

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Acute Insulin Responses to Calcium and Tolbutamide Do Not Differentiate Focal from Diffuse Congenital Hyperinsulinism

The journal of clinical endocrinology and metabolism, 2004-02, Vol.89 (2), p.925-929

2004

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Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia

Pediatrics (Evanston), 2001-03, Vol.107 (3), p.476-479

2001

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Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresia

Pediatric research, 2004-12, Vol.56 (6), p.975-980

2004

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Coexistence in the Same Family of Both Focal and Diffuse Forms of Hyperinsulinism

Diabetes care, 2007-06, Vol.30 (6), p.1590-1592

2007

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Value of 18F-fluoro-L-dopa PET in the preoperative localization of focal lesions in congenital hyperinsulinism

Radiology, 2009-10, Vol.253 (1), p.216

2009

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Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

European journal of endocrinology, 2012-04, Vol.166 (4), p.687-694

2012

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Long-Term Followup and Comparison Between Genotype and Phenotype in 29 Cases of Complete Androgen Insensitivity Syndrome

The Journal of urology, 2008-10, Vol.180 (4), p.1496-1501

2008

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Prenatal sonographic diagnosis of congenital hiatal hernia

Prenatal diagnosis, 2004-01, Vol.24 (1), p.26-30

2004

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Clinical Features of 52 Neonates with Hyperinsulinism

The New England journal of medicine, 1999-04, Vol.340 (15), p.1169-1175

1999

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The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

The journal of clinical endocrinology and metabolism, 2006-10, Vol.91 (10), p.4118-4123

2006

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Loss-of-function mutation in GATA4 causes anomalies of human testicular development

Pitfalls in the diagnosis and management of obstructive uterovaginal duplication: a series of 32 cases

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

Congenital Hyperinsulinism: Pancreatic [18F]Fluoro-l-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion

Congenital hyperinsulinism

Outcome of suprarenal localized masses diagnosed during the perinatal period: A retrospective multicenter study

Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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

Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism

Long-Term Surgical Results and Patient Satisfaction With Male Pseudohermaphroditism or True Hermaphroditism: A Cohort of 63 Patients

Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases

Surgical management of the intersex patient: an overview in 2003

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

Aetiological diagnosis of male sex ambiguity: a collaborative study

Acute Insulin Responses to Calcium and Tolbutamide Do Not Differentiate Focal from Diffuse Congenital Hyperinsulinism

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia

Fetal intestinal obstruction induces alteration of enteric nervous system development in human intestinal atresia

Coexistence in the Same Family of Both Focal and Diffuse Forms of Hyperinsulinism

Value of 18F-fluoro-L-dopa PET in the preoperative localization of focal lesions in congenital hyperinsulinism

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

Long-Term Followup and Comparison Between Genotype and Phenotype in 29 Cases of Complete Androgen Insensitivity Syndrome

Prenatal sonographic diagnosis of congenital hiatal hernia

Clinical Features of 52 Neonates with Hyperinsulinism

The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

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