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Sulcus vocalis: evidence for autosomal dominant inheritance
(Funpec-editora, 2011-01-01)
We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to ...
Sulcus vocalis: evidence for autosomal dominant inheritance
(Funpec-editora, 2011-01-01)
We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to ...
Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most ...
SHORT TARSUS - ABSENCE OF LOWER EYELASHES - AN AUTOSOMAL-DOMINANT CONDITION
(Munksgaard Int Publ LtdCopenhagenDinamarca, 1994)
Sulcus vocalis: evidence for autosomal dominant inheritance
(Funpec-editora, 2014)
Outcome of renal transplantation in patients with autosomal dominant polycystic kidney disease
(SOC MEDICA SANTIAGO, 2012)
Background: Patients with autosomal dominant polycystic kidney disease (ADPKD) have a better survival in chronic dialysis than patients with other etiologies of renal failure. It has been suggested that extra-renal ...
Histogenesis of the cysts in the autosomal dominant polycystic kidney disease: An immunohistochemical study
(1998-01-01)
The histogenesis of the cysts in the autosomal dominant polycystic kidney disease was investigated in 33 patients by immunohistochemistry. The antibodies and lectins used to identify the different segments of the nephrons ...
MACROSOMIA, OBESITY, MACROCEPHALY AND OCULAR ABNORMALITIES (MOMO SYNDROME) IN 2 UNRELATED PATIENTS - DELINEATION OF A NEWLY RECOGNIZED OVERGROWTH SYNDROME
(Wiley-Blackwell, 1993-06-15)
We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of ...
Spontaneous remission of primary hyperparathyroidism in a patient with neurofibromatosis type 1: case report
(2012)
Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem disorder affecting approximately 1 in 3500 individuals. Patients with the disorder can develop carcinoid tumors, medullary thyroid carcinoma, pheochromocytoma ...
MACROSOMIA, OBESITY, MACROCEPHALY AND OCULAR ABNORMALITIES (MOMO SYNDROME) IN 2 UNRELATED PATIENTS - DELINEATION OF A NEWLY RECOGNIZED OVERGROWTH SYNDROME
(Wiley-Blackwell, 1993-06-15)
We describe 2 unrelated patients, a boy and a girl, with an overgrowth syndrome and the following common characteristics: macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus), downward slant of ...