Results 261 to 270 of about 395,077 (304)

Phenotypic and genotypic variability in Alpers syndrome

European Journal of Paediatric Neurology, 2012
Alpers syndrome is one of the most common phenotypes of mitochondrial disorders in early childhood and has been associated with pathogenic mutations in POLG1.To investigate the phenotypic-genotypic correlations in Alpers syndrome and to identify potential differences among patients with Alpers syndrome with or without pathogenic POLG1 mutations ...
Kalliopi, Sofou, Ali-Reza, Moslemi, Gittan, Kollberg, Ingibjörg, Bjarnadóttir, Anders, Oldfors, Inger, Nennesmo, Elisabeth, Holme, Már, Tulinius, Niklas, Darin   +8 more
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Adrenoleukodystrophy: Phenotypic variability and implications for therapy

Journal of Inherited Metabolic Disease, 1992
SummaryX‐linked adrenoleukodystrophy (ALD) is a relatively common disorder that shows a great deal of phenotypic variability. Approximately half of the patients have the rapidly progressive childhood cerebral form that is associated with an inflammatory response in brain and leads to total disability or death during the first decade.
H. W. Moser, A. B. Moser, K. D. Smith, A. Bergin, J. Borel, J. Shankroff, O. C. Stine, C. Merette, J. Ott, W. Krivit, E. Shapiro   +10 more
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Phenotypic Variability in Echinoderms

2020
The phylum Echinodermata has been one of the most widely recognized and studied group of invertebrates since ancient times. The phenotype of an individual is the end product of a highly complex set of interactive events between the genotype and environment.
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Phenotypic variability in a Spanish family with MNGIE

Neurology, 2002
Clinical, biochemical, and genetic features of a Spanish family with mitochondrial neurogastrointestinal encephalomyopathy are reported. The proband presented with severe gastrointestinal dysmotility and the affected sister had extraocular muscle weakness.
J, Gamez, C, Ferreiro, M L, Accarino, L, Guarner, S, Tadesse, R A, Martí, A L, Andreu, N, Raguer, C, Cervera, M, Hirano   +9 more
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Phenotypic variability in Townes‐Brocks syndrome

American Journal of Medical Genetics, 1984
AbstractThis is a report on a child with sensorineural deafness, imperforate anus with rectovaginal fistula, hypoplastic thumb, and congenital heart defect. This pattern of congenital anomalies is similar to that described in patients with the Townes‐Brocks syndrome, although the present patient has characteristics that have not been reported ...
João Monteiro de Pina‐Neto, John M. Opitz   +1 more
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The Variable in Common Variable Immunodeficiency: A Disease of Complex Phenotypes

The Journal of Allergy and Clinical Immunology: In Practice, 2013
Common variable immunodeficiency (CVID) is the most common and clinically most important severe primary antibody deficiency and is characterized by low levels of IgG, IgA, and/or IgM, with a failure to produce specific antibodies. This diagnostic category represents a heterogeneous group of disorders, which present not only with acute and chronic ...
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Phenotypic Variability (Heterogeneity) of Peroxisomal Disorders

2003
Peroxisomes perform a multitude of biosynthetic and catabolic functions, many of which are related to lipid metabolism. Peroxisomal disorders result either from deficiency of a single peroxisomal enzyme or protein, or from a defect in the complex mechanism of peroxisomal biogenesis, resulting in deficiency of several or multiple peroxisomal functions ...
Hanna, Mandel, Stanley H, Korman
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Phenotypic and molecular variability of the holoprosencephalic spectrum

American Journal of Medical Genetics Part A, 2004
AbstractSince 1996, a European network has been organized from Rennes, France and holoprosencephalic files were collected for clinical and molecular study. Familial instances of typical and atypical holoprosencephaly (HPE) were found in 30% of cases.
Leila, Lazaro, Christéle, Dubourg, Laurent, Pasquier, Franck, Le Duff, Martine, Blayau, Marie-Renée, Durou, Armelle Thomas, de la Pintière, Céline, Aguilella, Véronique, David, Sylvie, Odent   +9 more
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Phenotypic Variability of SOCS1 Haploinsufficiency

Journal of Clinical Immunology, 2023
Rebecca C. Hale, Nichole Owen, Bo Yuan, Ivan K. Chinn, Josephine S. C. Chong, Henry H. Shiau, Sarah Kogan Nicholas, Sanjiv Harpavat   +7 more
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Phenotype variability of dystonia in monozygotic twins

Journal of Neurology, 2000
Sirs: Suggestions that dystonia may be initiated by a peripheral trauma date from the nineteenth century [1]. However, the demonstration of a direct causative link has so far been lacking. Case reports have shown that the clinical presentation of posttraumatic dystonia differs substantially from that of primary torsion dystonia [2, 3].
Albanese A, Bentivoglio AR, Del Grosso N, Cassetta E, Frontali M, VALENTE, Enza Maria, Tonali P.   +6 more
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