Phenotype-Genotype Correlations in Congenital Isolated Growth Hormone Deficiency (IGHD)

Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond

(2011) Mark James McCabe et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Increased Transactivation Associated withSOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism

(2011) Kyriaki S. Alatzoglou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency

(2010) Liat Ashkenazi-Hoffnung et al.   HUMAN GENETICS

Genetic causes and treatment of isolated growth hormone deficiency—an update

(2010) Kyriaki S. Alatzoglou et al.   Nature Reviews Endocrinology

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

(2009) Emma M.M. Burkitt Wright et al.   CLINICAL DYSMORPHOLOGY

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function

(2009) N Shariat et al.   CLINICAL GENETICS

A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II

(2009) Rizwan Hamid et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Expanding the Spectrum of Mutations inGH1andGHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency

(2009) Kyriaki S. Alatzoglou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Growth Hormone (GH) Deficiency Type II: A Novel GH-1 Gene Mutation (GH-R178H) Affecting Secretion and Action

(2009) Vibor Petkovic et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype

(2009) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of a novel splicing mutation in the growth hormone (GH)-releasing hormone receptor gene in a Chinese family with pituitary dwarfism

(2009) Qi Wang et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene

(2008) Lorenzo Iughetti et al.   CLINICAL ENDOCRINOLOGY

X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update

(2008) Donn M. Stewart et al.   IMMUNOLOGIC RESEARCH

A Novel Dominant Negative Mutation of OTX2 Associated with Combined Pituitary Hormone Deficiency

(2008) Daniel Diaczok et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

OTX2Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using theIRBP,HESX1, andPOU1F1Promoters

(2008) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

OTX2 Loss of Function Mutation Causes Anophthalmia and Combined Pituitary Hormone Deficiency with a Small Anterior and Ectopic Posterior Pituitary

(2008) Toshihiro Tajima et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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(2008) Latifa Hilal et al.   MOLECULAR MEDICINE

Rescue of Pituitary Function in a Mouse Model of Isolated Growth Hormone Deficiency Type II by RNA Interference

(2007) Nikki Shariat et al.   ENDOCRINOLOGY