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Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark—A National Observational Study

The journal of clinical endocrinology and metabolism, 2023-09, Vol.108 (10), p.2475-2485

2023

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Clinico-radiological correlation of pituitary stalk interruption syndrome in children with growth hormone deficiency

Pituitary, 2023-10, Vol.26 (5), p.622-628

2023

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Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement

Hormone research in paediatrics, 2016-10, Vol.86 (2), p.106-116

2016

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Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency

Best Practice & Research Clinical Endocrinology & Metabolism, 2011-02, Vol.25 (1), p.43-60

2011

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The spectrum of hypopituitarism caused by PROP1 mutations

Best Practice & Research Clinical Endocrinology & Metabolism, 2002-09, Vol.16 (3), p.421-431

2002

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POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature

Pituitary, 2021-10, Vol.24 (5), p.657-669

2021

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MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

European journal of endocrinology, 2016-06, Vol.174 (6), p.R239

2016

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A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency

Experimental and clinical endocrinology & diabetes, 2010-07, Vol.118 (7), p.405

2010

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Osteonecrosis of Femoral Head is Associated with Congenital Multiple Pituitary Hormone Deficiency: Report of Three Cases and Literature Review

Endocrine research, 2019-10, Vol.44 (4), p.153-158

2019

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Response to Growth Hormone Treatment in Isolated Growth Hormone Deficiency versus Multiple Pituitary Hormone Deficiency

Hormone research in paediatrics, 2011-01, Vol.76 (1), p.42-46

2011

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Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

Proceedings of the National Academy of Sciences - PNAS, 2011-01, Vol.108 (1), p.173-178

2011

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Genetic disorders of the pituitary

Current opinion in endocrinology, diabetes, and obesity, 2012-02, Vol.19 (1), p.33-39

Cohen, Laurie E

2012

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A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck—a case report and review of the literature

European journal of pediatrics, 2011-08, Vol.170 (8), p.1017-1021

2011

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FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency

European journal of medical genetics, 2019-11, Vol.62 (11), p.103570-103570, Article 103570

2019

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Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss

BMC endocrine disorders, 2017-03, Vol.17 (1), p.17-17, Article 17

2017

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Congenital hypopituitarism: how to select the patients for genetic analyses

Italian journal of pediatrics, 2018-04, Vol.44 (1), p.47-47, Article 47

2018

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Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency

Journal of pediatric endocrinology & metabolism : JPEM, 2005-04, Vol.18 (4), p.385

2005

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Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency

Journal of pediatric endocrinology & metabolism : JPEM, 2014-01, Vol.27 (1-2), p.171

2014

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Hypopituitarism

The Lancet (British edition), 2016-11, Vol.388 (10058), p.2403-2415

2016

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Circulating microRNA profiles and the identification of miR-593 and miR-511 which directly target the PROP1 gene in children with combined pituitary hormone deficiency

International journal of molecular medicine, 2015-02, Vol.35 (2), p.358-366

2015

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A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies

Journal of pediatric endocrinology & metabolism : JPEM, 2002-03, Vol.15 (3), p.325

2002

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Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

Nature genetics, 2000-06, Vol.25 (2), p.182-186

2000

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A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella Turcica

Endocrine Journal, 2007, Vol.54(4), pp.637-641

2007

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Diagnosis and Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark—A National Observational Study

Clinico-radiological correlation of pituitary stalk interruption syndrome in children with growth hormone deficiency

Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity

Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement

Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency

The spectrum of hypopituitarism caused by PROP1 mutations

POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature

MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency

Osteonecrosis of Femoral Head is Associated with Congenital Multiple Pituitary Hormone Deficiency: Report of Three Cases and Literature Review

Response to Growth Hormone Treatment in Isolated Growth Hormone Deficiency versus Multiple Pituitary Hormone Deficiency

Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo

Genetic disorders of the pituitary

A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck—a case report and review of the literature

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency

Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss

Congenital hypopituitarism: how to select the patients for genetic analyses

Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency

Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency

Hypopituitarism

Circulating microRNA profiles and the identification of miR-593 and miR-511 which directly target the PROP1 gene in children with combined pituitary hormone deficiency

A novel mutation in PIT-1: phenotypic variability in familial combined pituitary hormone deficiencies

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella Turcica

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

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