المؤلفون: Pfaeffle RW; University Children's Hospital, Leipzig, Germany., Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF, Rhodes SJ

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2008 Mar; Vol. 93 (3), pp. 1062-71. Date of Electronic Publication: 2007 Dec 11.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0021-972X (Print) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Homeodomain Proteins/*genetics , Pituitary Hormones/*deficiency , Transcription Factors/*genetics, Adolescent ; Adult ; Amino Acid Sequence ; Animals ; Cells, Cultured ; Child ; Child, Preschool ; DNA/metabolism ; Female ; Humans ; Infant ; LIM-Homeodomain Proteins ; Male ; Mice ; Molecular Sequence Data ; Transcription, Genetic

المؤلفون: Pfaeffle RW; Department of Cellular and Integrative Physiology, Indiana University School of Medicine, Medical Science Room 362A, 635 North Barnhill Drive, Indianapolis, IN 46202-5120, USA. rpfaeffle@medizin.uni-leipzig.de, Savage JJ, Hunter CS, Palme C, Ahlmann M, Kumar P, Bellone J, Schoenau E, Korsch E, Brämswig JH, Stobbe HM, Blum WF, Rhodes SJ

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2007 May; Vol. 92 (5), pp. 1909-19. Date of Electronic Publication: 2007 Feb 27.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0021-972X (Print) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Homeodomain Proteins/*genetics , Muscle Rigidity/*physiopathology , Mutation/*physiology , Neck Muscles/*physiopathology , Pituitary Hormones/*deficiency, Adult ; Brain/pathology ; Child ; Consanguinity ; DNA/genetics ; Electrophoretic Mobility Shift Assay ; Female ; Gene Frequency ; Genes, Reporter/genetics ; Hormones/blood ; Humans ; LIM-Homeodomain Proteins ; Luciferases/genetics ; Magnetic Resonance Imaging ; Male ; Pedigree ; Phenotype ; Plasmids/genetics ; Range of Motion, Articular/physiology ; Reverse Transcriptase Polymerase Chain Reaction ; Transcription Factors ; Transfection

المؤلفون: Bhangoo AP; Pediatric Endocrinology Division, Infant's and Children's Hospital of Brooklyn at Maimonides, Brooklyn, New York 11219, USA., Hunter CS, Savage JJ, Anhalt H, Pavlakis S, Walvoord EC, Ten S, Rhodes SJ

المصدر: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2006 Mar; Vol. 91 (3), pp. 747-53. Date of Electronic Publication: 2006 Jan 04.

نوع المنشور: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0021-972X (Print) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Homeodomain Proteins/*genetics , Pituitary Hormones/*deficiency, Amino Acid Sequence ; Child ; Consanguinity ; Female ; Humans ; LIM-Homeodomain Proteins ; Male ; Molecular Sequence Data ; Pituitary Gland/pathology ; Sequence Deletion ; Transcription Factors