Results 251 to 260 of about 395,077 (304)

CEDNIK syndrome with phenotypic variability

Pediatric Dermatology, 2022
AbstractCEDNIK syndrome is a rare autosomal recessive syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma of which 25 cases from 19 families have been reported to date. It is a progressive neurodegenerative disorder caused by the loss‐of‐function pathogenic variant of the SNAP29 gene encoding a member of the SNARE ...
Arti Nanda, Tarek M. Karam, Atlal AlLafi
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Phenotypic Variability in Acquired and Idiopathic Dystonia

Movement Disorders Clinical Practice, 2023
AbstractBackgroundTo date, a few studies have systematically investigated differences in the clinical spectrum between acquired and idiopathic dystonias.ObjectivesTo compare demographic data and clinical features in patients with adult‐onset acquired and idiopathic dystonias.MethodsPatients were identified from among those included in the Italian ...
Giovanni Defazio, Angelo Fabio Gigante, Roberto Erro, Daniele Belvisi, Marcello Esposito, Assunta Trinchillo, Gabriella De Joanna, Roberto Ceravolo, Sonia Mazzucchi, Elisa Unti, Paolo Barone, Sara Scannapieco, Maria Sofia Cotelli, Marinella Turla, Marta Bianchi, Laura Bertolasi, Antonio Pisani, Francesca Valentino, Maria Concetta Altavista, Vincenzo Moschella, Paolo Girlanda, Carmen Terranova, Francesco Bono, Giorgio Spano, Giovanni Fabbrini, Gina Ferrazzano, Alberto Albanese, Anna Castagna, Daniela Cassano, Mario Coletti Moja, Roberta Pellicciari, Anna Rita Bentivoglio, Roberto Eleopra, Giovanni Cossu, Tommaso Ercoli, Marcello Mario Mascia, Francesca Di Biasio, Salvatore Misceo, Luca Magistrelli, Marcello Romano, Cesa Lorella Maria Scaglione, Michele Tinazzi, Luca Maderna, Maurizio Zibetti, Alfredo Berardelli   +44 more
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The phenotypic variability of diastrophic dysplasia

The Journal of Pediatrics, 1978
To determine the relationship between so-called "diastrophic variant" and diastrophic dysplasia, four patients considered to have the variant condition were studied in detail and compared to 67 patients (including 17 sets of affected sibs) considered to have classical diastrophic dysplasia.
W A, Horton, D L, Rimoin, R S, Lachman, F, Skovby, D W, Hollister, J, Spranger, C I, Scott, J G, Hall   +7 more
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The effect of the environment on phenotypic variability

Proceedings of the Royal Society of London. Series B - Biological Sciences, 1958
Abstract Mice were raised from birth to 4 weeks of age in three climatic chambers maintained at temperatures of 28 °C (‘hot’), 21 °C (‘temperate’) and 5 °C (‘cold’). Their individual weights were recorded at weeks 1, 2, 3 and 4, and analyzed for the sexes separately.
M R, ASHOUB, J D, BIGGERS, A, McLAREN, D, MICHIE   +3 more
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Phenotypic Variability Induced by Parasites:

Parasitology Today, 1999
The diversity of ways in which parasites can modify the host genotypic signal has been documented in recent years. For example, parasites can shift the mean value and increase the variance of phenotypic traits in host populations, or alter the phenotypic sex ratio of host populations, with several evolutionary implications.
R, Poulin, F, Thomas
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Phenotypic Variability

2016
absent
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Variable Bone Phenotypes in Patients with Pseudohypoparathyroidism

Current Osteoporosis Reports, 2023
Pseudohypoparathyroidism (PHP) is a disorder caused by mutations and/or epigenetic changes at the complex GNAS locus. It is characterized by hypocalcemia, hyperphosphatemia, and an elevated parathyroid hormone concentration secondary to the resistance of target tissues to the biological actions of parathyroid hormone.
Yan Wang, Chunyan Lu, Xiang Chen
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The variable phenotype of FXTAS

Neurology, 2005
Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is caused by an expansion of a CGG trinucleotide repeat in the 5′ untranslated region of the fragile X mental retardation gene, the FMR1 gene, on the X chromosome to more than 200 repeats (full mutation).
Christoph Kamm, Thomas Gasser
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Phenotypic variability in myotonia congenita

Muscle & Nerve, 2005
AbstractMyotonia congenita is a hereditary chloride channel disorder characterized by delayed relaxation of skeletal muscle (myotonia). It is caused by mutations in the skeletal muscle chloride channel gene CLCN1 on chromosome 7. The phenotypic spectrum of myotonia congenita ranges from mild myotonia disclosed only by clinical examination to severe and
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Phenotypic variability in Meckel–Gruber syndrome

Clinical Genetics, 1990
Five Bedouin sibs are described with Meckel‐Gruber syndrome (MGS), an autosomal recessive disorder with multiple abnormalities. Each affected sib manifested only two of the three cardinal signs of MGS: occipital encephalocele and polycystic kidneys, lacking polydactyly. The phenotypic variability of the MGS pleiotropic gene is briefly discussed.
T I, Farag, R, Usha, R, Uma, S A, Mady, K, al-Nagdy, M H, el-Badramany   +5 more
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