Works matching IS 16632818 AND DT 2014 AND VI 80 AND IP 6

Results: 21

Title Page / Table of Contents.

Published in:: Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 373, doi. 10.1159/000357573
Publication type:: Article

Editorial.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 377, doi. 10.1159/000356705

By:

Czernichow, Paul

Publication type:

Article

Contents Vol. 80, 2013.

Published in:: Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. I, doi. 10.1159/000357577
Publication type:: Article

Splice Site Mutations in GH1 Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 390, doi. 10.1159/000355403

By:

Kempers, M.J.E.;
van der Crabben, S.N.;
de Vroede, M.;
alfen-van der Velden, J.;
Netea-Maier, R.T.;
Duim, R.a.J.;
Otten, B.J.;
Losekoot, M.;
Wit, J.M.

Publication type:

Article

Genetics of Growth.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 379, doi. 10.1159/000355402

By:

Wit, Jan M.;
Mullis, Primus E.

Publication type:

Article

The Role of Zinc Dynamics in Growth Hormone Secretion.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 381, doi. 10.1159/000355408

By:

Miletta, Maria Consolata;
Schöni, Martin H.;
Kernland, Kristin;
Mullis, Primus E.;
Petkovic, Vibor

Publication type:

Article

Front & Back Matter.

Published in:: Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. X, doi. 10.1159/000358736
Publication type:: Article

A Novel GHR Intronic Variant, c.266+83G>T, Activates a Cryptic 5′ Splice Site Causing Severe GHR Deficiency and Classical GH Insensitivity Syndrome.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 397, doi. 10.1159/000355404

By:

Feigerlova, Eva;
Swinyard, Mike;
Derr, Michael a.;
Farnsworth, Jeannie;
andrew, Shayne F.;
Rosenfeld, Ron G.;
Hwa, Vivian

Publication type:

Article

Genetic Analysis of GHR Should Contain Sequencing of All Coding Exons and Specific Intron Sequences, and Screening for Exon Deletions.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 406, doi. 10.1159/000355928

By:

Walenkamp, M.J.E.;
Klammt, J.;
Feigerlova, E.;
Losekoot, M.;
van Duyvenvoorde, H.a.;
Hwa, V.;
Pfäffle, R.;
Wit, J.M.

Publication type:

Article

Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 413, doi. 10.1159/000355412

By:

Domené, Horacio M.;
Scaglia, Paula a.;
Martínez, alicia S.;
Keselman, ana C.;
Karabatas, Liliana M.;
Pipman, Viviana R.;
Bengolea, Sonia V.;
Guida, María C.;
Ropelato, María G.;
Ballerini, María G.;
Lescano, Eva M.;
Blanco, Miguel a.;
Heinrich, Juan J.;
Rey, Rodolfo a.;
Jasper, Héctor G.

Publication type:

Article

Novel Acid-Labile Subunit (IGFALS) Mutation p.T145K (c.434C>A) in a Patient with ALS Deficiency, Normal Stature and Immunological Dysfunction.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 424, doi. 10.1159/000355927

By:

Schreiner, Felix;
Schoenberger, Stefan;
Koester, Bernhard;
Domené, Horacio M.;
Woelfle, Joachim

Publication type:

Article

Alu-Mediated Recombination Defect in IGF1R: Haploinsufficiency in a Patient with Short Stature.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 431, doi. 10.1159/000355410

By:

Harmel, Eva-Maria;
Binder, Gerhard;
Barnikol-Oettler, anja;
Caliebe, Janina;
Kiess, Wieland;
Losekoot, Monique;
Ranke, Michael B.;
Rappold, Gudrun a.;
Schlicke, Marina;
Stobbe, Heike;
Wit, Jan M.;
Pfäffle, Roland;
Klammt, Jürgen

Publication type:

Article

A Database and Website for Molecular Defects of the GH-IGF Axis: www.growthgenetics.com.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 443, doi. 10.1159/000355543

By:

Rosenfeld, Ron G.;
von Stein, Thorsten

Publication type:

Article

The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 449, doi. 10.1159/000355411

By:

Malaquias, alexsandra C.;
Scalco, Renata C.;
Fontenele, Eveline G.P.;
Costalonga, Everlayny F.;
Baldin, alexandre D.;
Braz, adriana F.;
Funari, Mariana F.a.;
Nishi, Mirian Y.;
Guerra-Junior, Gil;
Mendonca, Berenice B.;
arnhold, Ivo J.P.;
Jorge, alexander a.L.

Publication type:

Article

Association Analysis of Ten Candidate Genes in a Large Multinational Cohort of Small for Gestational Age Children and Children with Idiopathic Short Stature (NESTEGG study).

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 466, doi. 10.1159/000355409

By:

de Graaff, L.C.G.;
Clark, a.J.L.;
Tauber, M.;
Ranke, M.B.;
Johnston, L.B.;
Caliebe, J.;
Molinas, C.;
amin, N.;
van Duijn, C.;
Wollmann, H.;
Wallaschofski, H.;
Savage, M.O.;
Hokken-Koelega, a.C.S.

Publication type:

Article

Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 457, doi. 10.1159/000355544

By:

Brioude, F.;
Lacoste, a.;
Netchine, I.;
Vazquez, M.-P.;
auber, F.;
audry, G.;
Gauthier-Villars, M.;
Brugieres, L.;
Gicquel, C.;
Le Bouc, Y.;
Rossignol, S.

Publication type:

Article

Pharmacogenomics Related to Growth Disorders.

Published in:

Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 477, doi. 10.1159/000355658

By:

Stevens, a.;
De Leonibus, C.;
Whatmore, a.;
Hanson, D.;
Murray, P.;
Chatelain, P.;
Westwood, M.;
Clayton, P.

Publication type:

Article

Author Index Vol. 80, No. 6, 2013.

Published in:: Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 491, doi. 10.1159/000357574
Publication type:: Article

Subject Index Vol. 80, No. 6, 2013.

Published in:: Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 492, doi. 10.1159/000336083
Publication type:: Article

Subject Index Vol. 80, 2013.

Published in:: Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 495, doi. 10.1159/000357576
Publication type:: Article

Acknowledgement to the Reviewers.

Published in:: Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 493, doi. 10.1159/000357575
Publication type:: Article