Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

(2015) F. A. Correa et al.   Endocrine Connections

Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia

(2014) G. Corneli et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency

(2014) Y. Carlomagno et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Variations inPROKR2, But NotPROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia

(2013) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency

(2013) G. M. C. Flemming et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

High Prevalence ofPROP1Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency

(2013) Ruta Navardauskaite et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Relatively high frequency of non-synonymousGLI2variants in patients with congenital hypopituitarism without holoprosencephaly

(2012) Marcela M. França et al.   CLINICAL ENDOCRINOLOGY

Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia

(2012) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

(2012) Masaki Takagi et al.   PLoS One

Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects

(2011) Barbora Obermannova et al.   Hormone Research in Paediatrics

Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency

(2010) Juliana B. Cruz et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

PROP1, HESX1, POU1F1, LHX3 and LHX4 Mutation and Deletion Screening and GH1 P89L and IVS3+1/+2 Mutation Screening in a Dutch Nationwide Cohort of Patients with Combined Pituitary Hormone Deficiency

(2010) Laura C.G. de Graaff et al.   Hormone Research in Paediatrics

Novel Heterozygous NonsenseGLI2Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

(2010) Marcela M. França et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient withLHX4Deletion

(2010) Sumito Dateki et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Congenital hypopituitarism: clinical, molecular and neuroradiological correlates

(2009) Ameeta Mehta et al.   CLINICAL ENDOCRINOLOGY

A Novel Mutation in the LIM Homeobox 3 Gene Is Responsible for Combined Pituitary Hormone Deficiency, Hearing Impairment, and Vertebral Malformations

(2009) Berit Kriström et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

(2009) David Moher et al.   PLOS MEDICINE

Molecular analysis of novelPROP1mutations associated with combined pituitary hormone deficiency (CPHD)

(2008) D. Kelberman et al.   CLINICAL ENDOCRINOLOGY

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

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

A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism

(2008) F. Castinetti et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Three Novel Missense Mutations within theLHX4Gene Are Associated with Variable Pituitary Hormone Deficiencies

(2007) Roland W. Pfaeffle et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM