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Academic Journal

In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.

  • Authors : Neocleous V; Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.; Shammas C

Subjects: Computer Simulation* ; Mutation, Missense*; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics

  • Source: Clinical endocrinology [Clin Endocrinol (Oxf)] 2016 Jan; Vol. 84 (1), pp. 80-4. Date of Electronic Publication: 2015 Aug 06.Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Hyperinsulinaemic hypoglycaemia associated with a heterozygous missense mutation of R1174W in the insulin receptor (IR) gene.

  • Authors : Huang Z; Department of Endocrinology and Diabetes Centre, The First Affiliated Hospital of Sun Yat-sen University, #58 Zhongshan Er Road, Guangzhou, Guangdong, P.R. China.; Li Y

Subjects: Hyperinsulinism/Hyperinsulinism/Hyperinsulinism/*genetics ; Hyperinsulinism/Hyperinsulinism/Hyperinsulinism/*pathology ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics

  • Source: Clinical endocrinology [Clin Endocrinol (Oxf)] 2009 Nov; Vol. 71 (5), pp. 659-65. Date of Electronic Publication: 2009 Jan 19.Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase-deficiency.

Subjects: Chromosomes, Human, X* ; Mutation, Missense*; Arylsulfatases/Arylsulfatases/Arylsulfatases/*deficiency

  • Source: Clinical endocrinology [Clin Endocrinol (Oxf)] 2003 Aug; Vol. 59 (2), pp. 263-4.Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print Cited Medium: Print ISSN: 0300-0664

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Academic Journal

Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred.

  • Authors : Brunner E; Neuroendocrine Unit, Division of Endocrinology, Department of Medicine, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.; Baima J

Subjects: Mutation, Missense*; Hydrocortisone/Hydrocortisone/Hydrocortisone/*blood ; Transcortin/Transcortin/Transcortin/*deficiency

  • Source: Clinical endocrinology [Clin Endocrinol (Oxf)] 2003 Jun; Vol. 58 (6), pp. 756-62.Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print Cited Medium: Print ISSN: 0300-0664

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Academic Journal

Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation.

  • Authors : Cetani F; Dipartimento di Endocrinologia e Metabolismo, Università di Pisa, Pisa, Italy.; Pardi E

Subjects: Mutation, Missense*; Calcium/Calcium/Calcium/*urine ; Hypercalcemia/Hypercalcemia/Hypercalcemia/*genetics

  • Source: Clinical endocrinology [Clin Endocrinol (Oxf)] 2003 Feb; Vol. 58 (2), pp. 199-206.Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0346653 Publication Model: Print Cited Medium: Print ISSN: 0300-0664

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Academic Journal

Novel missense mutation in the IGF- I receptor L2 domain results in intrauterine and postnatal growth retardation.

Subjects: MISSENSE mutation; INSULIN-like growth factor-binding proteins; FETAL growth retardation

  • Source: Clinical Endocrinology; Aug2012, Vol. 77 Issue 2, p246-254, 9p, 5 Graphs

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Academic Journal

Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.

Subjects: *MISSENSE mutation; *HYDROXYSTEROID dehydrogenases; *STEROID synthesis

  • Source: Clinical Endocrinology. Jun2014, Vol. 80 Issue 6, p782-789. 8p.

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Academic Journal

Expanding genetic spectrum and discriminatory role of steroid profiling by LC‐MS/MS in 11β‐hydroxylase deficiency.

Subjects: ADRENAL insufficiency; ADRENOCORTICAL hormones; MISSENSE mutation

  • Source: Clinical Endocrinology; Apr2021, Vol. 94 Issue 4, p533-543, 11p

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Academic Journal

A missense mutation in the arginine-vasopressin neurophysin- II gene causes autosomal dominant neurohypophyseal diabetes insipidus in a Chinese family.

Subjects: FAMILIAL diseases; DIABETES insipidus; GENETIC mutation

  • Source: Clinical Endocrinology; Jun2013, Vol. 78 Issue 6, p920-925, 6p, 1 Diagram, 3 Charts, 1 Graph

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Academic Journal

Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.

Subjects: AROMATASE; SEX differentiation (Embryology); ESTROGEN

  • Source: Clinical Endocrinology; Jul2011, Vol. 75 Issue 1, p39-43, 5p, 2 Graphs

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  • 1-10 of  437 results for ""MISSENSE mutation""