Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations (Q38822960)

6 September 2017

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title

Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations (English)

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ORCID Public Data File 2021

6 September 2017

Miguel Reyes-Múgica

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author name string

Manuel Nistal

series ordinal

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6 September 2017

Ricardo Paniagua

series ordinal

1 reference

6 September 2017

Pilar González-Peramato

series ordinal

1 reference

6 September 2017

publication date

2 May 2016

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Pediatric and Developmental Pathology

6 September 2017

published in

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6 September 2017

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6 September 2017

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6 September 2017

page(s)

291-309

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What controls the timing of puberty? An update on progress from genetic investigation

6 September 2017

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Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty.

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A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.

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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

21 January 2018

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Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

21 January 2018

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Hypogonadotropic hypogonadism

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21 January 2018

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21 January 2018

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Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

21 January 2018

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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

21 January 2018

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Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism

21 January 2018

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Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.

21 January 2018

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Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes

21 January 2018

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Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations

21 January 2018

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Neurologic findings in men with isolated hypogonadotropic hypogonadism.

21 January 2018

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Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

21 January 2018

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Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome

21 January 2018

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A syndrome of eunuchoidism with spermatogenesis, normal urinary FSH and low or normal ICSH: (fertile eunuchs).

21 January 2018

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Hypogonadotropic Hypogonadism with Anosmia (Kallmann's Syndrome) Unresponsive to Clomiphene Citrate

21 January 2018

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21 January 2018

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21 January 2018

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The spectrum of abnormal patterns of gonadotropin-releasing hormone secretion in men with idiopathic hypogonadotropic hypogonadism: clinical and laboratory correlations

21 January 2018

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Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations

21 January 2018

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Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans

21 January 2018

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Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes

21 January 2018

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Analysis of the Cys82Arg mutation in follicle-stimulating hormone beta (FSHbeta) using a novel FSH expression vector

21 January 2018

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Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone beta subunit mutation

21 January 2018

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Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertility

21 January 2018

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21 January 2018

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Hypogonadism in a male with an immunologically active, biologically inactive luteinizing hormone: characterization of the abnormal hormone

21 January 2018

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Hypogonadism Caused by a Single Amino Acid Substitution in the β Subunit of Luteinizing Hormone

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility

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21 January 2018

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21 January 2018

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Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome.

21 January 2018

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Absence of spermatogonia in the Prader-Willi syndrome

21 January 2018

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Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart- Willi syndrome.

21 January 2018

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The FSH-inhibin axis in prader-willi syndrome: heterogeneity of gonadal dysfunction

21 January 2018

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Multiple forms of hypogonadism of central, peripheral or combined origin in males with Prader-Willi syndrome.

21 January 2018

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Endocrine manifestations and management of Prader-Willi syndrome

21 January 2018

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The GH/IGF-I axis and pituitary function and size in adults with Prader-Willi syndrome

21 January 2018

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Prader-Willi syndrome: current understanding of cause and diagnosis

21 January 2018

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Parental origin of chromosome 15 deletion in Prader-Willi syndrome

21 January 2018

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Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview

21 January 2018

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Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

21 January 2018

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Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases

21 January 2018

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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

21 January 2018

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Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

21 January 2018

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Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology

21 January 2018

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21 January 2018

Prader-Willi syndrome.

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The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria

21 January 2018

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The genetics, diagnosis, and management of Prader-Willi syndrome

21 January 2018

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The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

21 January 2018

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A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty

21 January 2018

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Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus

21 January 2018

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21 January 2018

Bardet-Biedl syndrome

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Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome

21 January 2018

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Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome

21 January 2018

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Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.

21 January 2018

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Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

21 January 2018

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Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome

21 January 2018

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Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.

21 January 2018

1 reference

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Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

21 January 2018

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

21 January 2018

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Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

21 January 2018

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Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

21 January 2018

1 reference

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Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome

21 January 2018

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Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

21 January 2018

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Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

21 January 2018

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

21 January 2018

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Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

21 January 2018

1 reference

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Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

21 January 2018

1 reference

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A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

21 January 2018

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Ichthyosis keeps surprising us.

21 January 2018

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An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis.

21 January 2018

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A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects

21 January 2018

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Johnson-McMillin syndrome: report of a new case with novel features

21 January 2018

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A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism.

21 January 2018

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Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency

21 January 2018

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A New Family of Boucher-Neuhauuser Syndrome: Coexistence of Holmes Type Cerebellar Atrophy, Hypogonadotropic Hypogonadism and Retinochoroidar Degeneration: Case Reports and Review of Literature

21 January 2018

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Ataxia-telangiectasia and related diseases

21 January 2018

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ATM kinase: Much more than a DNA damage responsive protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Expression of Human Frataxin Is Regulated by Transcription Factors SRF and TFAP2

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

The pathogenesis of Friedreich ataxia and the structure and function of frataxin

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Prominent expression of spinocerebellar ataxia type-1 (SCA1) gene encoding ataxin-1 in LH-producing cells, LbetaT2.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Are hypersegmented neutrophils a characteristic of Boucher-Neuhäuser syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Hypogonadism and neurological diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

The retinal ciliopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Prenatal death in Fraser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Fraser Syndrome: Epidemiological Study in a European Population

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Molecular study of 33 families with Fraser syndrome new data and mutation review.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Mutations in GRIP1 cause Fraser syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

The role of Fras1/Frem proteins in the structure and function of basement membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

21 January 2018

1 reference

https://api.crossref.org/works/10.2350%2F16-04-1810-PB.1

21 January 2018

Identifiers

DOI

10.2350/16-04-1810-PB.1

1 reference

6 September 2017

1 reference