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

Results: 21

Contents Vol. 80, 2013.
Published in:
Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. I, doi. 10.1159/000357577
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
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
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
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
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
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
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
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
Acknowledgement to the Reviewers.
Published in:
Hormone Research in Paediatrics, 2014, v. 80, n. 6, p. 493, doi. 10.1159/000357575
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