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Graziella Pinto

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Nicolas Kalfa; Sylvie MANOUVRIER; Totsumo Ogata; Pascal Philibert; Catherine Pienkowski; Graziella Pinto; Michel Polak; Françoise Audran; Maki Fukami; Jacques Weill; Charles Sultan
Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
Pascal Philibert; Catherine Pienkowski; Graziella Pinto; Michel Polak; Francis Poulat; Sunil Sinha; Svetlana Ten; Elisabeth Thibaud; Delphine Zenaty; Françoise Audran; Durval Damiani; Silvia Einaudi; Muriel Houang; Nicolas Kalfa; Juliane Leger; Jean-Christophe Mas; Françoise Paris; Charles Sultan
Phenotypic variation of SF1 gene mutations.
Loïc de Pontual; Delphine Trochet; Sophie Caillat-Zucman; Othman A Abou Shenab; Pierre Bougneres; Yanick Crow; Steve Cunningham; Blandine Esteva; Lada Cindro Heberle; Juliane Leger; Graziella Pinto; Michel Polak; Magdy Helmy Shafik; Christian Straus; Ha Trang; Arnold Munnich; Stanislas LYONNET; Isabelle Desguerre; Jeanne Amiel
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.

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All Publications

2012: Nicolas Kalfa; Sylvie MANOUVRIER; Totsumo Ogata; Pascal Philibert; Catherine Pienkowski; Graziella Pinto; Michel Polak; Françoise Audran; Maki Fukami; Jacques Weill; Charles Sultan
Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
PloS one 2012;7(3):e32505.
2011: Pascal Philibert; Catherine Pienkowski; Graziella Pinto; Michel Polak; Francis Poulat; Sunil Sinha; Svetlana Ten; Elisabeth Thibaud; Delphine Zenaty; Françoise Audran; Durval Damiani; Silvia Einaudi; Muriel Houang; Nicolas Kalfa; Juliane Leger; Jean-Christophe Mas; Françoise Paris; Charles Sultan
Phenotypic variation of SF1 gene mutations.
Advances in experimental medicine and biology 2011;707():67-72.
2008: Loïc de Pontual; Delphine Trochet; Sophie Caillat-Zucman; Othman A Abou Shenab; Pierre Bougneres; Yanick Crow; Steve Cunningham; Blandine Esteva; Lada Cindro Heberle; Juliane Leger; Graziella Pinto; Michel Polak; Magdy Helmy Shafik; Christian Straus; Ha Trang; Arnold Munnich; Stanislas LYONNET; Isabelle Desguerre; Jeanne Amiel
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.
Pediatric research 2008;64(6):689-94.
2008: Stéphanie Eyssette-Guerreau; Graziella Pinto; Ariane Sultan; Martine Le Merrer; Charles Sultan; Michel Polak
Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty.
Journal of pediatric endocrinology & metabolism : JPEM 2008;21(10):995-1002.
2007: Irène Netchine; Sylvie Rossignol; Marie-Noëlle Dufourg; Salah Azzi; Alexandra Rousseau; Laurence Perin; Muriel Houang; Virginie Steunou; Blandine Esteva; Nathalie Thibaud; Marie-Charles Raux Demay; Fabienne Danton; Elzbieta Petriczko; Anne-Marie Bertrand; Claudine Heinrichs; Jean-Claude Carel; Guy-André Loeuille; Graziella Pinto; Marie-Line Jacquemont; Christine Gicquel; Sylvie Cabrol; Yves Le Bouc
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
The Journal of clinical endocrinology and metabolism 2007;92(8):3148-54.
2007: Asmahane Ladjouze; Sylvie Soskin; Catherine Garel; Marc Jullien; Catherine Naud-Saudreau; Graziella Pinto; Paul Czernichow; Juliane Léger
GH deficiency with central precocious puberty: a new rare disorder associated with a developmental defect of the hypothalamic-pituitary area.
European journal of endocrinology / European Federation of Endocrine Societies 2007;156(4):463-9.
2007: Anne Bachelot; Geneviève Plu-Bureau; Elisabeth Thibaud; Kathleen Laborde; Graziella Pinto; Dinane Samara; Claire Nihoul-Fékété; Frédérique Kuttenn; Michel Polak; Philippe Touraine
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Hormone research 2007;67(6):268-76.
2006: Delphine Zenaty; Frédérique Dijoud; Yves Morel; Sylvie Cabrol; Pierre Mouriquand; Marc Nicolino; C Bouvatier; Graziella Pinto; Claudine Lecointre; Catherine Pienkowski; Sylvie Soskin; M Bost; Anne-Marie Bertrand; Alaa El-Ghoneimi; Claire Nihoul-Fekete; Juliane Léger
Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment.
The Journal of pediatrics 2006;149(5):687-91.
2005: Graziella Pinto; Véronique Abadie; R Mesnage; J Blustajn; Sylvie Cabrol; J Amiel; Lucie Hertz-Pannier; Anne-Marie Bertrand; Stanislas LYONNET; R Rappaport; Irène Netchine
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.
The Journal of clinical endocrinology and metabolism 2005;90(10):5621-6.
2005: David Geneviève; Damien Sanlaville; Laurence Faivre; Marie-Laure Kottler; Marguerite Jambou; Philippe Gosset; Dinane Boustani-Samara; Graziella Pinto; Catherine Ozilou; Geneviève Abeguilé; Arnold Munnich; Serge Romana; Odile Raoul; Valérie Cormier-Daire; Michel Vekemans
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
European journal of human genetics : EJHG 2005;13(9):1033-9.
2005: Alain Pierre-Kahn; C Recassens; Graziella Pinto; C Thalassinos; S Chokron; J C Soubervielle; Raja Brauner; Michel ZERAH; Christian Sainte-Rose
Social and psycho-intellectual outcome following radical removal of craniopharyngiomas in childhood. A prospective series.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2005;21(8-9):817-24.
2004: Frédéric Bernard; Capucine Picard; Valérie Cormier-Daire; Céline Eidenschenk; Graziella Pinto; Jacinta-Cecilia Bustamante; Emmanuelle Jouanguy; Dominique Teillac-Hamel; Virginie Colomb; Isabelle Funck-Brentano; Véronique Pascal; Eric Vivier; Alain Fischer; Françoise Le Deist; Jean-Laurent Casanova
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
Pediatrics 2004;113(1 Pt 1):136-41.
2004: T Edouard; Christine Trivin; Ethel Lawson-Body; Graziella Pinto; Jean-Claude Souberbielle; Raja Brauner
Extreme short stature after intrauterine growth retardation: factors associated with lack of catch-up growth.
Hormone research 2004;61(1):33-40.
2003: Graziella Pinto; Veronique T V Tardy; Christine Trivin; C Thalassinos; stephen lortat-jacob; Claire Nihoul-Fékété; Yves Morel; Raja Brauner
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.
The Journal of clinical endocrinology and metabolism 2003;88(6):2624-33.
2001: Laurence Faivre; Valérie Cormier-Daire; David Geneviève; Graziella Pinto; O Goulet; Arnold Munnich; P Maroteaux; Martine Le Merrer
A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia.
Clinical dysmorphology 2001;10(3):181-4.
2000: L Bussières; Jean-Claude Souberbielle; Graziella Pinto; Luis Adan; M Noel; Raja Brauner
The use of insulin-like growth factor 1 reference values for the diagnosis of growth hormone deficiency in prepubertal children.
Clinical endocrinology 2000;52(6):735-9.
2000: Graziella Pinto; L Bussières; C Recasens; Jean-Claude Souberbielle; Michel ZERAH; Raja Brauner
Hormonal factors influencing weight and growth pattern in craniopharyngioma.
Hormone research 2000;53(4):163-9.
1999: Graziella Pinto; Luis Adan; Jean-Claude Souberbielle; C Thalassinos; F Brunelle; Raja Brauner
Idiopathic growth hormone deficiency: presentation, diagnostic and treatment during childhood.
Annales d'endocrinologie 1999;60(3):224-31.
1998: Graziella Pinto; Michel ZERAH; Christine Trivin; Raja Brauner
Pituitary apoplexy in an adolescent with prolactin-secreting adenoma.
Hormone research 1998;50(1):38-41.
1997: Graziella Pinto; Irène Netchine; Marie-Laure Sobrier; F Brunelle; Jean-Claude Souberbielle; Raja Brauner
Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis.
The Journal of clinical endocrinology and metabolism 1997;82(10):3450-4.