Search Results - "Mullis, P.-E." :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals

Ten Novel Mutations in the NR5A1 Gene Cause Disordered Sex Development in 46,XY and Ovarian Insufficiency in 46,XX Individuals

by Camats, N, Pandey, A. V, Fernández-Cancio, M, Andaluz, P, Janner, M, Torán, N, Moreno, F, Bereket, A, Akcay, T, García-García, E, Muñoz, M. T, Gracia, R, Nistal, M, Castaño, L, Mullis, P. E, Carrascosa, A, Audí, L, Flück, C. E
Published in The journal of clinical endocrinology and metabolism (01.07.2012)

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Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene : Impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood

Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene : Impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood

by MULLIS, P. E, YOSHIMURA, N, KUHLMANN, B, LIPPUNER, K, JAEGER, P, HARADA, H
Published in The journal of clinical endocrinology and metabolism (01.06.1997)

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Positional cloning of the APECED gene

Positional cloning of the APECED gene

by Nagamine, Kentaro, Peterson, Pärt, Scott, Hamish S, Kudoh, Jun, Minoshima, Shinsei, Heino, Maarit, Krohn, Kai J. E, Lalioti, Maria D, Mullis, Primus E, Antonarakis, Stylianos E, Kawasaki, Kazuhiko, Asakawa, Shuichi, Ito, Fumiaki, Shimizu, Nobuyoshi
Published in Nature genetics (01.12.1997)

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Do centimetres matter? Self-reported versus estimated height measurements in parents

Do centimetres matter? Self-reported versus estimated height measurements in parents

by Gozzi, T, Flück, CE, L'Allemand, D, Dattani, MT, Hindmarsh, PC, Mullis, PE
Published in Acta Paediatrica (01.04.2010)

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Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade

Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade

by SCHOENLE, E. J, LANG-MURITANO, M, GSCHWEND, S, LAIMBACHER, J, MULLIS, P. E, TORRESANI, T, BIASON-LAUBER, A, MOLINARI, L
Published in Diabetologia (01.03.2001)

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Insulin-Like Growth Factor-I Treatment in Primary Growth Hormone Insensitivity: Effect of Recombinant Human IGF-I (rhIGF-I) and rhIGF-I/rhIGF-Binding Protein-3 Complex

Insulin-Like Growth Factor-I Treatment in Primary Growth Hormone Insensitivity: Effect of Recombinant Human IGF-I (rhIGF-I) and rhIGF-I/rhIGF-Binding Protein-3 Complex

by Tonella, P., Flück, C.E., Mullis, P.-E.
Published in Hormone research in paediatrics (01.01.2010)

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Mutations in PROP1 cause familial combined pituitary hormone deficiency

Mutations in PROP1 cause familial combined pituitary hormone deficiency

by WEI WU, COGAN, J. D, PHILLIPS, J. A, ROSENFELD, M. G, PFÄFFLE, R. W, DASEN, J. S, FRISCH, H, O'CONNELL, S. M, FLYNN, S. E, BROWN, M. R, MULLIS, P. E, PARKS, J. S
Published in Nature genetics (01.02.1998)

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Prospective randomised treatment with recombinant human growth hormone in cystic fibrosis

Prospective randomised treatment with recombinant human growth hormone in cystic fibrosis

by Schibler, A, von der Heiden, R, Birrer, P, Mullis, P E
Published in Archives of disease in childhood (01.12.2003)

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Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg→Cys at codon 120 (R120C)

Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg→Cys at codon 120 (R120C)

by FLÜCK, C, DELADOEY, J, RUTISHAUSER, K, EBLE, A, MARTI, U, WEI WU, MULLIS, P. E
Published in The journal of clinical endocrinology and metabolism (01.10.1998)

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Hot spot in the PROP1 gene responsible for combined pituitary hormone deficiency

Hot spot in the PROP1 gene responsible for combined pituitary hormone deficiency

by DELADOËY, J, FLÜCK, C, BÜYÜKGEBIZ, A, KUHLMANN, B. V, EBLE, A, HINDMARSH, P. C, WEI WU, MULLIS, P. E
Published in The journal of clinical endocrinology and metabolism (01.05.1999)

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Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin

Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin

by BINDER, G, NAGEL, B. H. P, RANKE, M. B, MULLIS, P. E
Published in European journal of endocrinology (01.12.2002)

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Microalbuminuria in diabetes mellitus: Efficacy of a new screening method in comparison with timed overnight urine collection

Microalbuminuria in diabetes mellitus: Efficacy of a new screening method in comparison with timed overnight urine collection

by Meinhardt, U., Ammann, R.A., Flück, C., Diem, P., Mullis, P.E.
Published in Journal of diabetes and its complications (01.09.2003)

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Genetic homogeneity of autoimmune polyglandular disease type I

Genetic homogeneity of autoimmune polyglandular disease type I

by BJÖRSES, P, AALTONEN, J, MULLIS, P. E, POHL, M, RITZEN, M, ROMEO, G, SHAPIRO, M. S, SMITH, C. S, SOLYOM, J, ZLOTOGORA, J, PELTONEN, L, VIKMAN, A, PERHEENTUPA, J, BEN-ZION, G, CHIUMELLO, G, DAHL, N, HEIDEMAN, P, HOORWEG-NIJMAN, J. J. G, MATHIVON, L
Published in American journal of human genetics (01.10.1996)

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Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency

Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency

by WAGNER, J. K, EBLE, A, HINDMARSH, P. C, MULLIS, P. E
Published in Pediatric research (1998)

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Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line

Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line

by Nuoffer, JM, Fluck, C, Deladoey, J, Eble, A, Dattani, MT, Mullis, PE
Published in Journal of endocrinology (01.05.2000)

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Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed Type I diabetes mellitus with and without ketoacidosis

Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed Type I diabetes mellitus with and without ketoacidosis

by FLÜCK, C. E, KUHLMANN, B. V, MULLIS, P. E
Published in Diabetologia (01.09.1999)

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Which factors account for renal stone formation in cystic fibrosis?

Which factors account for renal stone formation in cystic fibrosis?

by von der Heiden, R, Balestra, A P G, Bianchetti, M G, Casaulta Aebischer, C, Mullis, P E, Lippuner, K, Jaeger, P
Published in Clinical nephrology (01.03.2003)

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Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Δ/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II)

Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Δ/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II)

by FLÜCK, Christa E, DELADOËY, Johnny, NAYAK, Sujatha, ZELLER, Oliver, KOPP, Peter, MULLIS, Primus E
Published in European journal of endocrinology (01.10.2001)

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High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes

High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes

by Janner, Marco, Ballinari, Pietro, Mullis, Primus E, Flück, Christa E
Published in Swiss medical weekly (2010)

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Treatment with low‐dose diazoxide in two growth‐retarded prepubertal girls with glycogen storage disease type Ia resulted in catch‐up growth

Treatment with low‐dose diazoxide in two growth‐retarded prepubertal girls with glycogen storage disease type Ia resulted in catch‐up growth

by Nuoffer, J. M., Mullis, P. E., Wiesmann, U. N.
Published in Journal of inherited metabolic disease (01.11.1997)

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