Results 261 to 270 of about 293,955 (289)

Autosomal dominant spastic paraplegias

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2021
To estimate the proportion and spectrum of infrequent autosomal dominant spastic paraplegias in a group of families with DNA-confirmed diagnosis and to investigate their molecular and clinical characteristics.Ten families with 6 AD-SPG: SPG6 (n=1), SPG8 (n=2), SPG9A (n=1), SPG12 (n=1), SPG17 (n=3), SPG31 (n=2) were studied using clinical, genealogical,
G E, Rudenskaya, V A, Kadnikova, L A, Bessonova, P A, Sparber, S A, Kurbatov, O L, Mironovich, F A, Konovalov, O P, Ryzhkova   +7 more
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AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY

Retina, 1997
Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially in the ocular fundus.
J, Roider, E, Fritsch, H, Hoerauf, W, Heide, H, Laqua   +4 more
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Autosomal dominant erythromelalgia

American Journal of Medical Genetics, 1992
AbstractWe present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature.
W H, Finley, J R, Lindsey, J D, Fine, G A, Dixon, M K, Burbank   +4 more
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Autosomal Dominant Ménétrier‐like Disease

Journal of Pediatric Gastroenterology and Nutrition, 2012
ABSTRACTBackground:Familial occurrence of Ménétrier disease is rare and has been reported only in few instances.Methods:Affected patients from a large pedigree were evaluated at the clinical, endoscopic, and pathological levels.Results:Affected members presented with gastropathy of variable severity but without protein loss.
Stisciuglio, C, Corleto, Vd, Brunetti Pierri, N, Rindi, Guido, Piccolo, P, Sangermano, R, Martini, Maurizio, D'Armiento, Fp, Staiano, A, Miele, E.   +9 more
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Autosomal dominant ichthyosis exfoliativa

British Journal of Dermatology, 1991
An unusual ichthyosiform dermatosis with circumscribed areas of blistering hyperkeratoses as well as scaly areas was observed in five consecutive generations of a German family. Light and electron microscopical studies revealed oedema of the keratinocytes in the upper epidermis but no defects of tonofilaments and keratohyalin granules.
F, Vakilzadeh, G, Kolde
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Autosomal dominant holocalvarial craniosynostosis

Child's Nervous System, 1995
Isolated holocalvarial synostosis with normal intelligence is described in two pairs of sibs from one kindred. Diagnosis was delayed until the age of 5 years in the pro-band. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with autosomal dominant inheritance.
G, Pillar, M, Zaaroor, R, Gershoni-Baruch   +2 more
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Autosomal dominant occipital cephalocele

Neurology, 2004
The authors report the clinical and radiographic characteristics of a non-consanguineous Vietnamese kindred with an autosomal dominant form of occipital cephalocele. Affected family members all presented with occipital subscalp bulges at birth. Except for the proband, all individuals were developmentally normal with otherwise normal neurologic ...
Alexander G, Bassuk, David, McLone, Robin, Bowman, John A, Kessler   +3 more
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Autosomal dominant cerebellar ataxias

Revue Neurologique, 2011
Cerebellar ataxias with autosomal dominant transmission (ADCA) are far rarer than sporadic cases of cerebellar ataxia. The identification of genes involved in dominant forms has confirmed the genetic heterogeneity of these conditions and of the underlying mechanisms and pathways.
C, Marelli, C, Cazeneuve, A, Brice, G, Stevanin, A, Dürr   +4 more
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Autosomal dominant cemental dysplasia

Oral Surgery, Oral Medicine, Oral Pathology, 1982
Abstract Autosomal dominant cemental dysplasia is the term chosen to describe what is considered to be a new entity affecting cementum and neighboring bone. The condition was present in ten members of the same family, segregating as an autosomal dominant trait. A review of the literature failed to demonstrate previously reported cases. The name was
H O, Sedano, R, Kuba, R J, Gorlin
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Autosomal Dominant Humeroperoneal Myopathy

Archives of Neurology, 1986
Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: early and unusual contractures; humeroperoneal muscle wasting; the slow progression of weakness, beginning in childhood; cardiac conduction defects; and X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent ...
J M, Gilchrist, R T, Leshner
openaire   +2 more sources