(Q50947782)

English

Comparison of Immunocytochemical and Molecular Features with the Phenotype in a Case of Incomplete Male Pseudohermaphroditism Associated with a Mutation of the Luteinizing Hormone Receptor1

scientific article published on July 1, 1997

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scholarly article

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Europe PubMed Central

PubMed publication ID

25 March 2018

http://europepmc.org/abstract/MED/9215288

Comparison of Immunocytochemical and Molecular Features with the Phenotype in a Case of Incomplete Male Pseudohermaphroditism Associated with a Mutation of the Luteinizing Hormone Receptor1 (English)

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most precise value

1 reference

10.1210/JCEM.82.7.4039

https://api.crossref.org/works/10.1210/JCEM.82.7.4039

12 September 2024

Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9215288

12 September 2024

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I. Beau

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9215288

12 September 2024

author name string

M. Misrahi

1

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12 September 2024

G. Meduri

2

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12 September 2024

S. Pissard

3

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12 September 2024

C. Bouvattier

4

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12 September 2024

H. Loosfelt

6

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9215288

12 September 2024

A. Jolivet

7

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9215288

12 September 2024

R. Rappaport

8

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9215288

12 September 2024

E. Milgrom

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9215288

12 September 2024

P. Bougneres

10

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9215288

12 September 2024

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publication date

1 July 1997

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Europe PubMed Central

PubMed publication ID

25 March 2018

http://europepmc.org/abstract/MED/9215288

full work available at URL

The Journal of Clinical Endocrinology and Metabolism

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Europe PubMed Central

PubMed publication ID

25 March 2018

http://europepmc.org/abstract/MED/9215288

82

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25 March 2018

http://europepmc.org/abstract/MED/9215288

7

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Europe PubMed Central

PubMed publication ID

25 March 2018

http://europepmc.org/abstract/MED/9215288

2159-2165

1 reference

Europe PubMed Central

PubMed publication ID

25 March 2018

http://europepmc.org/abstract/MED/9215288

Fetal Leydig cells: cellular origin, morphology, life span, and special functional features

3

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Cloning and sequencing of porcine LH-hCG receptor cDNA: variants lacking transmembrane domain

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Lutropin-choriogonadotropin receptor: an unusual member of the G protein-coupled receptor family

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Cloning and sequencing of human LH/hCG receptor cDNA

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Cloning and sequencing of human FSH receptor cDNA

11

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Cloning, sequencing and expression of the human thyrotropin (TSH) receptor: evidence for binding of autoantibodies

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Cloning, sequencing and expression of human TSH receptor

13

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Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor

14

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Composite structure of the human thyrotropin receptor gene

15

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12 September 2024

Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5' non-coding regions

16

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12 September 2024

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

17

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12 September 2024

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty

18

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12 September 2024

Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.

19

1 reference

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12 September 2024

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

22

1 reference

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12 September 2024

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia

23

1 reference

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12 September 2024

Brief report: testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene.

24

1 reference

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Leydig-cell agenesis: a cause of male pseudohermaphroditism

26

1 reference

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Leydig Cell Hypoplasia: A Cause of Male Pseudohermaphroditism

27

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Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation

28

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Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness.

29

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12 September 2024

Leydig cell hypofunction resulting in male pseudohermaphroditism

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12 September 2024

Leydig cell hypogenesis: a rare cause of male pseudohermaphroditism and a pathological model for the understanding of normal sexual differentiation.

31

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Leydig cell hypoplasia causing male pseudohermaphroditism: diagnosis 13 years after prepubertal castration

32

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A Syndrome of Gonadotropin Resistance Possibly due to a Luteinizing Hormone Receptor Defect*

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A clinico-genetic investigation of Leydig cell hypoplasia

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Familial Leydig Cell Hypoplasia as a Cause of Male Pseudohermaphroditism

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Male pseudohermaphroditism due to Leydig cell agenesia and absence of testicular LH receptors

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Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

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Immunochemical studies on cytochrome P-450 in adrenal microsomes

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Comparison of cellular distribution of LH receptors and steroidogenic enzymes in the porcine ovary

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14 Rosette-forming cell assay for detection of antibody-synthesizing hybridomas

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The incidence of congenital anomalies discovered in the neonatal period

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Requirement of cysteine residues in exons 1-6 of the extracellular domain of the luteinizing hormone receptor for gonadotropin binding

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Micropenis: medical and surgical implications.

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Studies on human sexual development. II. Fetal and maternal serum gonadotropin and sex steroid concentrations

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Identifiers

10.1210/JC.82.7.2159

1 reference

Europe PubMed Central

PubMed publication ID

25 March 2018

http://europepmc.org/abstract/MED/9215288

10.1210/JCEM.82.7.4039

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9215288

12 September 2024

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 March 2018

http://europepmc.org/abstract/MED/9215288

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