Identification of anIGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism

Spatial and temporal expression of immunoglobulin superfamily member 1 in the rat

(2015) Sjoerd D Joustra et al.   JOURNAL OF ENDOCRINOLOGY

Evidence for increasedSOX3dosage as a risk factor for X-linked hypopituitarism and neural tube defects

(2014) Marijke Bauters et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Screening for congenital hypothyroidism: A worldwide view of strategies

(2013) George Ford et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]

(2013) Toshihiro Tajima et al.   ENDOCRINE JOURNAL

The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

(2013) S. D. Joustra et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Three NovelIGSF1Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism

(2013) Akie Nakamura et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic disorders of the pituitary

(2013) Laurie E. Cohen   Current Opinion in Endocrinology Diabetes and Obesity

Mechanistic Insight into the Pathology of Polyalanine Expansion Disorders Revealed by a Mouse Model for X Linked Hypopituitarism

(2013) James Hughes et al.   PLoS Genetics

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

(2012) Yu Sun et al.   NATURE GENETICS

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

(2011) Kyriaki S. Alatzoglou et al.   INDIAN JOURNAL OF PEDIATRICS

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

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

A Family with Complete Resistance to Thyrotropin-Releasing Hormone

(2009) Marco Bonomi et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Internal Signal Sequence Directs Intramembrane Proteolysis of a Cellular Immunoglobulin Domain Protein

(2008) Thalia Robakis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY