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Your search keyword '"Hypoparathyroidism genetics"' showing total 39 results
Start Over Descriptor "Hypoparathyroidism genetics" Publication Year Range More than 50 years ago
39 results on '"Hypoparathyroidism genetics"'

1. [Familial hypoparathyroidism (author's transl)].

Author

Barwich D

Subjects
Adolescent, Adult, Calcinosis, Capillaries, Cerebrovascular Disorders diagnostic imaging, Electrocardiography, Epilepsy, Tonic-Clonic, Female, Hand, Humans, Hypercalcemia, Hypoparathyroidism etiology, Male, Muscle Cramp etiology, Parathyroid Diseases diagnostic imaging, Parathyroid Hormone, Phosphorus urine, Skull diagnostic imaging, Tomography, X-Ray, Hypoparathyroidism genetics
Published
1974

2. [Isolated cystinuria (without lysin-, ornithinand argininuria) in a family with hypocalcemic tetany].

Author

Brodehl J, Gellissen K, and Kowalewski S

Subjects
Adult, Arginine urine, Child, Child, Preschool, Chromatography, Cystinuria complications, Female, Humans, Hypocalcemia etiology, Hypoparathyroidism drug therapy, Lysine urine, Male, Ornithine urine, Parathyroid Glands, Parathyroid Hormone pharmacology, Pedigree, Phosphates blood, Tetany etiology, Tissue Extracts therapeutic use, Vitamin D therapeutic use, Amino Acid Metabolism, Inborn Errors, Cystinuria genetics, Hypocalcemia genetics, Hypoparathyroidism genetics, Tetany genetics
Published
1967

5. Juvenile familial endocrinopathy.

Author

Drury MI, Keelan DM, Timoney FJ, and Irvine WJ

Subjects
Adrenal Glands pathology, Adult, Autoantibodies analysis, Autoimmune Diseases diagnosis, Autopsy, Candidiasis complications, Celiac Disease genetics, Child, Consanguinity, Female, Glutens, Humans, Male, Ovary pathology, Parathyroid Glands pathology, Uterus pathology, Addison Disease genetics, Anemia, Pernicious genetics, Hyperthyroidism genetics, Hypoparathyroidism genetics, Ovarian Diseases genetics
Published
1970

6. Paediatric aspects of hypoparathyroidism.

Author

MacGregor ME

Subjects
Adolescent, Adult, Child, Preschool, Diagnosis, Differential, Female, Fibrous Dysplasia of Bone genetics, Genes, Recessive, Humans, Infant, Newborn, Male, Parathyroid Glands abnormalities, Pregnancy, Pregnancy Complications, Pregnancy in Diabetics, Pseudohypoparathyroidism genetics, Pseudopseudohypoparathyroidism genetics, Tetany etiology, Hypoparathyroidism diagnosis, Hypoparathyroidism genetics, Hypoparathyroidism therapy, Infant, Newborn, Diseases therapy
Published
1968

7. Familial hypoparathyroidism. Case reports and a eview of the literature.

Author

Richter PL and Chutorian AM

Subjects
Calcium blood, Child, Child, Preschool, Electroencephalography, Eye Manifestations, Female, Humans, Hypoparathyroidism blood, Hypoparathyroidism diagnosis, Hypoparathyroidism drug therapy, Pain etiology, Phosphorus blood, Seizures etiology, Vitamin D therapeutic use, Hypoparathyroidism genetics
Published
1968
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8. Familial idiopathic hypoparathyroidism.

Author

Bronsky D, Kiamko RT, and Waldstein SS

Subjects
Addison Disease complications, Adult, Child, Chromosome Aberrations, Chromosome Disorders, Consanguinity, Genes, Recessive, Humans, Male, Thalassemia, Hypoparathyroidism genetics
Published
1968
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10. [Hereditary disorders of phosphorus and calcium metabolism].

Author

Royer P

Subjects
Alkaline Phosphatase blood, Calcium urine, Humans, Hypercalcemia genetics, Hyperparathyroidism genetics, Hypocalcemia genetics, Hypoparathyroidism genetics, Hypophosphatasia, Magnesium blood, Nephrotic Syndrome etiology, Paraneoplastic Endocrine Syndromes, Rickets genetics, Vitamin D Deficiency genetics, Calcium Metabolism Disorders genetics, Phosphorus Metabolism Disorders genetics
Published
1974

12. Genetic disorders affecting mucous membranes.

Author

Gorlin RJ

Subjects
Humans, Acrodermatitis genetics, Addison Disease genetics, Candidiasis, Oral genetics, Darier Disease genetics, Dysautonomia, Familial genetics, Epidermolysis Bullosa genetics, Hypoparathyroidism genetics, Keratoconjunctivitis genetics, Keratosis genetics, Leukoplakia genetics, Mucous Membrane pathology, Neuroma genetics, Nevus, Pigmented genetics, Oral Manifestations, Pheochromocytoma genetics, Polyps genetics, Telangiectasis genetics, Thyroid Neoplasms genetics
Published
1969
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14. [Non-tumoral polytele-endocrine diseases].

Author

de Gennes JL and Peillon F

Subjects
Adrenal Insufficiency diagnosis, Adrenal Insufficiency genetics, Adrenal Insufficiency immunology, Antibodies analysis, Autoimmune Diseases diagnosis, Candidiasis diagnosis, Candidiasis genetics, Candidiasis immunology, Enuresis complications, Enuresis genetics, Humans, Hypersensitivity, Delayed immunology, Hypoparathyroidism diagnosis, Hypoparathyroidism genetics, Hypoparathyroidism immunology, Hypothyroidism diagnosis, Immunity, Cellular, Leukocytes immunology, Lymphocytes immunology, Pedigree, Syndrome, Endocrine System Diseases diagnosis
Published
1973

15. Congenital familial hypoparathyroidism. Management of an infant, genetics, pathogenesis of hypoparathyroidism, and fetal undermineralization.

Author

Gorodischer R, Aceto T Jr, and Terplan K

Subjects
Calcium therapeutic use, Ergocalciferols administration & dosage, Female, Fetal Diseases, Fetus metabolism, Genes, Humans, Hyperparathyroidism complications, Hypocalcemia drug therapy, Hypocalcemia etiology, Hypoparathyroidism drug therapy, Infant, Newborn, Parathyroid Hormone administration & dosage, Parathyroid Hormone biosynthesis, Pregnancy, Pregnancy Complications, Hypoparathyroidism congenital, Hypoparathyroidism genetics
Published
1970

16. [Peculiar aspects of hypoparathyroidism].

Subjects
Adolescent, Adult, Age Factors, Child, Child, Preschool, Humans, Infant, Infant, Newborn, Middle Aged, Neurologic Manifestations, Parathyroid Glands injuries, Parathyroid Glands radiation effects, Postoperative Complications, Tetany etiology, Hypoparathyroidism genetics, Hypoparathyroidism physiopathology
Published
1971

17. Familial distributions of organ specific antibodies in the blood of patients with Addison's disease and hypoparathyroidism and their relatives.

Author

Spinner MW, Blizzard RM, Gibbs J, Abbey H, and Childs B

Subjects
Addison Disease complications, Adolescent, Adult, Aged, Child, Child, Preschool, Humans, Hypoparathyroidism complications, Infant, Middle Aged, Organ Specificity, Parents, Stomach immunology, Thyroid Gland immunology, Addison Disease genetics, Addison Disease immunology, Autoantibodies analysis, Hypoparathyroidism genetics, Hypoparathyroidism immunology
Published
1969

20. [On the familial aspects of hypoparathyroidism].

Author

Gerlóczy F, Molnár M, Bizsik G, Nádor V, and Szathmáry S

Subjects
Adolescent, Adult, Child, Electromyography, Female, Humans, Hypoparathyroidism diagnosis, Male, Middle Aged, Radiography, Skull diagnostic imaging, Tetany genetics, Hypoparathyroidism genetics
Published
1966

23. Familial idiopathic basal ganglia calcification exhibiting "dystonia musculorum deformans" features.

Author

Caraceni T, Broggi G, and Avanzini G

Subjects
Adult, Calcinosis diagnostic imaging, Dystonia Musculorum Deformans diagnostic imaging, Humans, Hypoparathyroidism diagnostic imaging, Hypoparathyroidism genetics, Male, Neurologic Examination, Ophthalmoscopy, Pneumoencephalography, Psychological Tests, Basal Ganglia pathology, Calcinosis genetics, Dystonia Musculorum Deformans genetics
Published
1974
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24. Genetic disorders involving parathyroid hormone and calcitonin.

Author

Aurbach GD

Subjects
Adolescent, Carcinoma diagnosis, Cyclic AMP urine, Diagnosis, Differential, Female, Genes, Dominant, Humans, Hypoparathyroidism diagnosis, Multiple Endocrine Neoplasia blood, Pseudohypoparathyroidism diagnosis, Radioimmunoassay, Sex Chromosomes, Thyroid Neoplasms diagnosis, Calcitonin blood, Carcinoma genetics, Hypoparathyroidism genetics, Pseudohypoparathyroidism genetics, Thyroid Neoplasms genetics
Abstract

There are several genetic disorders that cause abnormalities in the hormonal regulation of calcium metabolism. These include familial hyperparathyroidism, multiple endocrine adenomatosis, pseudohypoparathyroidism and kindreds with multiple cases of medullary carcinoma of the throid. The clinical characteristics of these several syndromes are outlined. Several tests of endocrine function, either determination of hormone secretory rates or biochemical manifestations of the action of hormones, are helpful in delineating genetic modes of transmissions of these disorders. radioimmunoassays are becoming important adjuncts in the diagnosis of hyperparathyroidism and medullary carcinoma of the thyroid. Determination of 3',5'-adenosine monophosphate in urine in response to parathyroid hormone allows accurate diagnosis of pseudohypoparathyroidism.

Published
1971

25. Clinical and genetic heterogeneity in idiopathic Addison's disease and hypoparathyroidism.

Author

Spinner MW, Blizzard RM, and Childs B

Subjects
Addison Disease genetics, Adolescent, Adult, Age Factors, Analysis of Variance, Anemia, Pernicious, Autoimmune Diseases, Candidiasis, Child, Child, Preschool, Consanguinity, Diabetes Mellitus, Female, Genes, Recessive, Humans, Hypoparathyroidism genetics, Hypothyroidism, Infant, Infant, Newborn, Male, Middle Aged, Sex Factors, Addison Disease complications, Hypoparathyroidism complications
Published
1968
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26. Oral manifestations of systemic genetic disorders. II.

Author

Gorlin RJ and Sedano HO

Subjects
Addison Disease genetics, Candidiasis, Oral, Dysautonomia, Familial diagnosis, Epidermolysis Bullosa genetics, Humans, Hypoparathyroidism genetics, Keratoconjunctivitis genetics, Lipidoses genetics, Neurofibromatosis 1 genetics, Respiratory Tract Diseases genetics, Telangiectasia, Hereditary Hemorrhagic diagnosis, Genetic Diseases, Inborn, Oral Manifestations
Published
1971
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27. [Kinetics of Ca 45 in familial hypoparathyroidism].

Author

Conte N, Scandellari C, Macri' C, and Ferlin G

Subjects
Adolescent, Calcium blood, Child, Female, Humans, Hypoparathyroidism genetics, Male, Calcium metabolism, Calcium Isotopes, Hypoparathyroidism metabolism
Published
1967

28. [The ocular complications of familial-hypoparathyroidism in children].

Author

Dralands L, Evrard P, Ponchon P, Rommel J, and Stanescu B

Subjects
Adolescent, Adult, Cataract etiology, Child, Child, Preschool, Color Vision Defects etiology, Dark Adaptation, Electroretinography, Female, Humans, Hypoparathyroidism genetics, Male, Retinal Diseases etiology, Blepharoptosis etiology, Eye Diseases etiology, Hypoparathyroidism complications, Vision Disorders etiology, Visual Fields
Published
1971

29. Chronic hypoparathyroidism in two generations.

Author

Barr DG, Prader A, Esper U, Rampini S, Marrian VJ, and Forfar JO

Subjects
Addison Disease etiology, Adult, Child, Child, Preschool, Chromosome Aberrations, Chromosome Disorders, Chronic Disease, Epilepsy etiology, Female, Humans, Hypoparathyroidism complications, Infant, Infant, Newborn, Intellectual Disability etiology, Intelligence Tests, Male, Middle Aged, Pedigree, Personality Disorders etiology, Hypoparathyroidism genetics
Published
1971

30. Genetic modes of transmission in metabolic bone disease.

Author

Jackson CE and Mock LF

Subjects
Endocrine Glands physiopathology, Fanconi Syndrome genetics, Humans, Hyperparathyroidism genetics, Hypoparathyroidism genetics, Hypophosphatasia genetics, Osteitis Deformans genetics, Osteogenesis Imperfecta genetics, Osteoporosis genetics, Pedigree, Phosphoric Monoester Hydrolases, Pseudohypoparathyroidism genetics, Renal Tubular Transport, Inborn Errors genetics, Rickets genetics, Bone Diseases genetics, Metabolism, Inborn Errors
Published
1970

31. Ovarian failure and antiovarian antibodies in association with hypoparathyroidism, moniliasis, and Addison's and Hashimoto's diseases.

Author

Vazquez AM and Kenny FM

Subjects
Adolescent, Adult, Autoimmune Diseases genetics, Candidiasis genetics, Diabetes Mellitus immunology, Female, Follicle Stimulating Hormone blood, Gastritis immunology, Humans, Hypoparathyroidism genetics, Hypopituitarism complications, Intrinsic Factor, Luteinizing Hormone blood, Myxedema complications, Ovarian Diseases genetics, Syndrome, Addison Disease immunology, Antibodies, Anti-Idiotypic analysis, Autoimmune Diseases immunology, Candidiasis immunology, Hypoparathyroidism immunology, Ovarian Diseases immunology, Thyroiditis, Autoimmune immunology
Published
1973

32. Chronic mucocutaneous candidiasis, endocrine deficiency and alopecia areata.

Author

Stankler L and Bewsher PD

Subjects
Addison Disease complications, Adolescent, Alopecia Areata complications, Alopecia Areata etiology, Autoimmune Diseases, Candidiasis, Cutaneous complications, Child, Preschool, Female, Humans, Hypoparathyroidism complications, Male, Middle Aged, Retrospective Studies, Alopecia Areata genetics, Candidiasis, Cutaneous genetics, Hypoparathyroidism genetics
Published
1972
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33. [Idiopathic hypoparathyroidism].

Author

Tomita A, Fujita T, and Takatsuki A

Subjects
Adult, Autoimmune Diseases, Female, Humans, Hypocalcemia complications, Male, Tetany complications, Hypoparathyroidism complications, Hypoparathyroidism diagnosis, Hypoparathyroidism epidemiology, Hypoparathyroidism etiology, Hypoparathyroidism genetics, Hypoparathyroidism pathology
Published
1970

34. [Candidiasis, hypoparathyroidism and idiopathic adrenal insufficiency syndrome in a 10-year-old boy. Nosological and ethiopathogenetic considerations].

Author

Quichaud J, Le Bozec R, Frison B, Galez A, Massy B, and Blanchard J

Subjects
Addison Disease diagnosis, Addison Disease drug therapy, Addison Disease genetics, Addison Disease immunology, Antibodies analysis, Blood Chemical Analysis, Candidiasis diagnosis, Candidiasis drug therapy, Child, Humans, Hypoparathyroidism diagnosis, Hypoparathyroidism drug therapy, Hypoparathyroidism genetics, Hypoparathyroidism immunology, Male, Serologic Tests, Addison Disease complications, Candidiasis complications, Hypoparathyroidism complications
Published
1969

37. [Case report on the syndrome candidiasis, hypopara-thyreoidism and Addison's disease].

Author

Rameis K, Kurz R, and Glatzl J

Subjects
Addison Disease etiology, Adolescent, Candidiasis etiology, Child, Child, Preschool, Female, Humans, Hypersensitivity, Delayed complications, Hypoparathyroidism etiology, Infant, Male, Skin Tests, Syndrome, Addison Disease genetics, Candidiasis genetics, Hypoparathyroidism genetics
Published
1972

38. Pseudo-vitamin D deficiency rickets (PDR) and relative hypoparathyroidism: a report of a family.

Author

Strewler GJ, Bernstein DS, and Pletka P

Subjects
Adult, Alkaline Phosphatase blood, Ammonia urine, Ammonium Chloride, Bicarbonates blood, Calcium blood, Calcium metabolism, Calcium urine, Female, Humans, Hydrogen-Ion Concentration, Hydroxyproline urine, Hypoparathyroidism complications, Hypoparathyroidism metabolism, Magnesium blood, Male, Phosphates blood, Phosphates metabolism, Phosphates urine, Rickets complications, Rickets metabolism, Urine, Vitamin D Deficiency complications, Vitamin D Deficiency metabolism, Hypoparathyroidism genetics, Rickets genetics, Vitamin D Deficiency genetics
Published
1973
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39. [A familial study of Whitaker's syndrome].

Author

Breynaert R, Bergeron G, Dumortier-Iscovich C, Pieraert C, Lefebvre J, Farriaux JP, and Fontaine G

Subjects
Adolescent, Calcium Metabolism Disorders etiology, Child, Humans, Male, Pedigree, Phosphorus Metabolism Disorders etiology, Syndrome, Addison Disease genetics, Autoimmune Diseases, Candidiasis, Cutaneous genetics, Hypoparathyroidism genetics
Published
1973

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