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Journal of Medical Genetics, ISSN 0040-6376, 08/1999, Volume 36, Issue 8, p. 599
A histological study was made of the small pulmonary blood vessels in pieces of lung obtained at necropsy from 19 long-term residents of La Paz, Bolivia (3800... 
Journal Article
FEBS Letters, ISSN 0014-5793, 1982, Volume 140, Issue 2, pp. 229 - 233
We report here on a difference in ATP-dependency of the uptake of T on the one hand and that of T and rT on the other by rat hepatocytes in primary culture. T... 
Journal Article
Endocrinology, ISSN 0013-7227, 1983, Volume 112, Issue 6, pp. 2221 - 2223
Animal experiments and clinical data indicate that prolactin (PRL) induces hyperinsulinemia and even diabetes. The effects of PRL on carbohydrate metabolism... 
Animals | Insulin - analysis | Immune Sera | Islets of Langerhans - cytology | Rats | Female | Male | Prolactin - analysis | Prolactin - immunology | Rats, Inbred Strains | Glucagon - analysis | Immunoenzyme Techniques | Index Medicus | Abridged Index Medicus
Journal Article
Clinical Genetics, ISSN 0009-9163, 1987, Volume 32, Issue 2, pp. 88 - 94
We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are... 
microcephaly | Seckel syndrome | bone dysplasia | osteodysplastic primordial dwarfism | intrauterine dwarfism | dwarfism | Pregnancy | Diseases in Twins | Dwarfism - genetics | Microcephaly - genetics | Pedigree | Humans | Female | Fetal Growth Retardation - genetics | Male | Genes, Recessive | Infant, Newborn | Syndrome | Index Medicus
Journal Article
The Lancet, ISSN 0140-6736, 1987, Volume 330, Issue 8554, pp. 329 - 329
Journal Article
American Journal of Medical Genetics - Seminars in Medical Genetics, ISSN 0148-7299, 07/1987, Volume 27, Issue 3, pp. 727 - 728
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1989, Volume 32, Issue 1, pp. 15 - 18
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1989, Volume 34, Issue 3, pp. 313 - 316
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/1990, Volume 27, Issue 7, pp. 467 - 471
We report a father and son affected by a hitherto unpublished bone dysplasia with moderately severe dwarfism. On initial radiographs, thickening of the... 
GENETICS & HEREDITY | Dwarfism - genetics | Genes, Dominant | Humans | Child, Preschool | Adult | Male | Bone Diseases, Developmental - complications | Bone Diseases, Developmental - genetics | Eye Abnormalities - genetics | Eye Abnormalities - complications | Index Medicus
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 1990, Volume 22, Issue 5, pp. 920 - 922
We present the clinical and histologic features of the cutaneous lesions in a girl with cardio-facio-cutaneous syndrome. Marked tortuosity with hyperkeratosis... 
DERMATOLOGY & VENEREAL DISEASES | Hair Diseases - pathology | Humans | Hyperplasia | Heart Defects, Congenital - pathology | Child, Preschool | Body Height | Female | Skin Diseases - pathology | Sweat Glands - pathology | Syndrome | Index Medicus
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1990, Volume 37, Issue 3, pp. 437 - 438
Recently we did the necropsy of a 23-week-old fetus (genetic file No. 5225) born after induced abortion. The mother, aged 17, was treated by etretinate for... 
fetuses
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 05/1990, Volume 22, Issue 5(1-2), p. 920
Cardio-facio-cutaneous syndrome is a hereditary disorder involving abnormalities of the heart, face, and skin. The case study of a four-year-old girl with this... 
Case studies | Physiological aspects | Noonan syndrome | Pediatric dermatology
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1991, Volume 39, Issue 1, pp. 4 - 10
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1992, Volume 44, Issue 1, pp. 48 - 51
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1992, Volume 44, Issue 5, pp. 605 - 607
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 1992, Volume 42, Issue 2, pp. 180 - 183
We report on a stillborn boy with frontonasal malformation (Sedano-Jirasek type D-De-Myer type I), associated with encephalocoele, occipital meningocele and... 
preaxial polydactyly | acrocallosal syndrome | MCA syndrome | encephalocoele | frontonasal dysplasia | MCA SYNDROME | ENCEPHALOCOELE | ACROCALLOSAL SYNDROME | GENETICS & HEREDITY | FRONTONASAL DYSPLASIA | PREAXIAL POLYDACTYLY | FACIAL CLEFT SYNDROME
Journal Article
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