(Q51001037)

English

Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents.

scientific article published in August 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parents. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

0 references

lipoatrophic diabetes

1 reference

based on heuristic

inferred from title

author name string

L Van Maldergem

1

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

A Bachy

2

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

D Feldman

3

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

R Bouillon

4

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

J Maassen

5

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

M Dreyer

6

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

R Rey

7

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

C Holm

8

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

Y Gillerot

9

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

publication date

1 August 1996

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

64

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

3

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

506-513

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

An undiagnosed endocrinometabolic syndrome: report of 2 cases

1 reference

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21 January 2018

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

1 reference

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21 January 2018

Identification of unique nuclear regulatory proteins for the insulin receptor gene, which appear during myocyte and adipocyte differentiation

1 reference

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21 January 2018

Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family

1 reference

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21 January 2018

Evidence that insulin and isoprenaline activate the cGMP-inhibited low-Km cAMP phosphodiesterase in rat fat cells by phosphorylation

1 reference

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21 January 2018

The persistent Müllerian duct syndrome: a molecular approach

1 reference

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21 January 2018

Hormone-Sensitive Lipase: Sequence, Expression, and Chromosomal Localization to 19 cent-q13.3

1 reference

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21 January 2018

Cell culture studies of a patient with congenital lipoatrophic diabetes--normal insulin binding with alterations in intracellular glucose metabolism and insulin action.

1 reference

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21 January 2018

Genetic defects of the 1,25-dihydroxyvitamin D3 receptor

1 reference

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21 January 2018

Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families.

1 reference

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21 January 2018

Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome

1 reference

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21 January 2018

Altered expression and function of the insulin receptor in a family with lipoatrophic diabetes.

1 reference

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21 January 2018

Activation of Protein Kinase-C Inhibits Vitamin D Receptor Gene Expression

1 reference

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21 January 2018

Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.

1 reference

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21 January 2018

Gene organization and primary structure of human hormone-sensitive lipase: possible significance of a sequence homology with a lipase of Moraxella TA144, an antarctic bacterium

1 reference

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21 January 2018

In vitro studies of insulin resistance in patients with lipoatrophic diabetes. Evidence for heterogeneous postbinding defects.

1 reference

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21 January 2018

Tyrosine-kinase defect of the insulin receptor in cultured fibroblasts from patients with lipoatropic diabetes.

1 reference

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21 January 2018

Abnormal binding of vitamin D receptors to deoxyribonucleic acid in a kindred with vitamin D-dependent rickets, type II.

1 reference

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21 January 2018

The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families

1 reference

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21 January 2018

Cloning and expression of cDNA encoding 25-hydroxyvitamin D3 24-hydroxylase

1 reference

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21 January 2018

THE ATTRACTIONS OF PROTEINS FOR SMALL MOLECULES AND IONS

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Repression of c-fos transcription and an altered genetic program in senescent human fibroblasts

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21 January 2018

Heterogeneity of the insulin-receptor interaction in lipoatropic diabetes.

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21 January 2018

Activating mutations of the stimulatory G protein in the McCune-Albright syndrome

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21 January 2018

Insulin-stimulated receptor phosphorylation appears normal in cultured Epstein-Barr virus-transformed lymphocyte cell lines derived from patients with extreme insulin resistance

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21 January 2018

Hormone-sensitive lipase: quantitation of enzyme activity and mRNA level in small biopsies of human adipose tissue

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21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19960823)64:3<506::AID-AJMG12>3.0.CO;2-P

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/8862631

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