Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. (Q38543146)

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18 February 2020

review article

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title

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

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multicenter clinical trial

18 February 2020

main subject

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13

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18 February 2020

author name string

Francesca De Rienzo

1

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Simona Mellone

2

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Simonetta Bellone

3

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Deepak Babu

4

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Ileana Fusco

5

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Flavia Prodam

6

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Antonella Petri

7

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Ranjith Muniswamy

8

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Filippo De Luca

9

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Mariacarolina Salerno

10

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Patricia Momigliano-Richardi

11

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Gianni Bona

12

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Italian Study Group on Genetics of CPHD

14

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publication date

6 August 2015

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18 February 2020

published in

Clinical Endocrinology

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volume

83

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issue

6

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page(s)

849-860

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Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement

18 February 2020

cites work

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

21 January 2018

1 reference

Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.

21 January 2018

1 reference

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

21 January 2018

1 reference

High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.

21 January 2018

1 reference

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism

21 January 2018

1 reference

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 with LHX4 deletion.

21 January 2018

1 reference

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

21 January 2018

1 reference

Congenital hypopituitarism: clinical, molecular and neuroradiological correlates

21 January 2018

1 reference

A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency

21 January 2018

1 reference

Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.

21 January 2018

1 reference

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

21 January 2018

1 reference

PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.

21 January 2018

1 reference

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

21 January 2018

1 reference

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

21 January 2018

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Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

21 January 2018

1 reference

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.

21 January 2018

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Clinical characteristics and molecular analysis of PIT1, PROP1,LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging

21 January 2018

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Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.

21 January 2018

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Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.

21 January 2018

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Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

21 January 2018

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Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.

21 January 2018

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A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations

21 January 2018

1 reference

Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD).

21 January 2018

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HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in PROP1 cause familial combined pituitary hormone deficiency

21 January 2018

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

21 January 2018

1 reference

Human Prop-1: cloning, mapping, genomic structure

21 January 2018

1 reference

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations

21 January 2018

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Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency

21 January 2018

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Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

21 January 2018

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Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

21 January 2018

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Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

21 January 2018

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Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.

21 January 2018

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

21 January 2018

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Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.

21 January 2018

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High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CEN.12849

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26147833%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

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