Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

Autor: Sun Y; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ

Publikováno v: Nature genetics [Nat Genet] 2012 Dec; Vol. 44 (12), pp. 1375-81. Date of Electronic Publication: 2012 Nov 11.

Asian MODY: are we missing an important diagnosis?

Autor: Porter JR; Institute of Child Health, Birmingham Children's Hospital, Birmingham, UK. j.porter@bham.ac.uk, Rangasami JJ, Ellard S, Gloyn AL, Shields BM, Edwards J, Anderson JM, Shaw NJ, Hattersley AT, Frayling TM, Plunkett M, Barrett TG

Publikováno v: Diabetic medicine : a journal of the British Diabetic Association [Diabet Med] 2006 Nov; Vol. 23 (11), pp. 1257-60.

Childhood insulin dependent diabetes: Oxford may not be representative.

Autor: Rangasami JJ, Greenwood DC, McSporran B, Smail PJ, Patterson CC, Waugh NR

Publikováno v: BMJ (Clinical research ed.) [BMJ] 1998 Jan 31; Vol. 316 (7128), pp. 391-2.

Familial precocious puberty in girls.

Autor: Rangasami JJ; Department of Paediatric Endocrinology, Hospital for Sick Children, London., Grant DB

Publikováno v: Journal of the Royal Society of Medicine [J R Soc Med] 1992 Aug; Vol. 85 (8), pp. 497-8.

"Management of andrological disorders from childhood and adolescence to transition age: guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS) in collaboration with the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP)-Part-1".

Autor: Bonomi M; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy. m.bonomi@auxologico.it.; Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy. m.bonomi@auxologico.it., Cangiano B; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149, Milan, Italy., Cianfarani S; Endocrinology and Diabetes Unit, Bambino Gesù Children's Hospital, Rome, Italy.; Department of Systems Medicine, University of Rome 'Tor Vergata', Rome, Italy.; Department of Women's and Children's Health, Karolinska Institute, Stockholm, Sweden., Garolla A; Unit of Andrology and Reproductive Medicine, Department of Medicine, University of Padova, Padua, Italy., Gianfrilli D; Section of Medical Pathophysiology and Endocrinology, Department of Experimental Medicine, 'Sapienza' University of Rome, Rome, Italy.; Centre for Rare Diseases (Endo-ERN Accredited), Policlinico Umberto I, Rome, Italy., Lanfranco F; Division of Endocrinology, Andrology and Metabolism, Department of Medical Sciences, Humanitas Gradenigo, University of Turin, Turin, Italy., Rastrelli G; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Careggi Hospital, University of Florence, Florence, Italy., Sbardella E; Section of Medical Pathophysiology and Endocrinology, Department of Experimental Medicine, 'Sapienza' University of Rome, Rome, Italy.; Centre for Rare Diseases (Endo-ERN Accredited), Policlinico Umberto I, Rome, Italy., Corona G; Endocrinology Unit, Medical Department, Maggiore-Bellaria Hospital, Azienda Usl, Bologna, Italy., Isidori AM; Section of Medical Pathophysiology and Endocrinology, Department of Experimental Medicine, 'Sapienza' University of Rome, Rome, Italy.; Centre for Rare Diseases (Endo-ERN Accredited), Policlinico Umberto I, Rome, Italy., Rochira V; Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. vincenzo.rochira@unimore.it.; Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria Di Modena Policlinico Di Modena, Ospedale Civile Di Baggiovara, Via Giardini 1355, 41126, Modena, Italy. vincenzo.rochira@unimore.it.

Publikováno v: Journal of endocrinological investigation [J Endocrinol Invest] 2024 Aug 10. Date of Electronic Publication: 2024 Aug 10.