Clinical Genetics
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Charcot‐Marie‐Tooth disease: Data for genetic counseling relating age to riskOne hundred and nine individuals from complete sibships at risk for autosomal dominant Charcot‐Marie‐Tooth (CMT) disease in 15 unrelated families were evaluated by physical examination and motor nerve conduction studies. Penetrance of the gene was 28% in the first decade, but was essentially complete by the middle of the third decade. The average age of onset of symptoms was 12.2 y, with a... ...
Clinical Genetics - Tập 14 Số 1 - Trang 43-49 - 1978
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trialsAbstract Megalencephaly‐CApillary malformation‐Polymicrogyria (MCAP) syndrome results from somatic mosaic gain‐of‐function variants in PIK3CA . Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to... ...
Clinical Genetics - Tập 99 Số 5 - Trang 650-661 - 2021
A Cys634Gly substitution of the RET proto‐oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosisGerm‐line mutations of the RET proto‐oncogene, involving five cysteine residues at codons 609, 611, 618, 620 and 634, are associated with two variants of the inherited cancer syndrome multiple endocrine neoplasia type 2: type 2A and familial medullary thyroid carcinoma. The association of multiple endocrine neoplasia type 2A with the dermatological disorder cutan... ...
Clinical Genetics - Tập 51 Số 2 - Trang 86-90 - 1997
Mitochondrial deafnessNon‐syndromic deafness can be caused by mutations in both nuclear and mitochondrial genes. More than 50 nuclear genes have been shown to be involved in non‐syndromic hearing loss, but mutations in mitochondrial DNA (mtDNA) might also cause hearing impairment. As mitochondria are responsible for oxidative phosphorylation, the primary energy‐producing system in all eukaryotic cells, mitochon... ...
Clinical Genetics - Tập 71 Số 5 - Trang 379-391 - 2007
Genetic and clinical aspects of Charcot‐Marie‐Tooth's diseaseThe prevalence of Charcot‐Marie‐Tooth's disease (CMT) was studied in Western Norway, an area with several isolated districts with a population of 725,000 (1968). Three hereditary types were distinguished in the area: autosomal dominant CMT with an estimated prevalence of 36/100,000; X‐linked recessive CMT with a prevalence of 3.6/100,000; and autosomal recessive CMT with a prevalence of 1.... ...
Clinical Genetics - Tập 6 Số 2 - Trang 98-118 - 1974
Gene/environment causes of cleft lip and/or palateCraniofacial anomalies, and in particular cleft lip and palate, are major human birth defects with a worldwide frequency of 1 in 700 and substantial clinical impact. A wide range of studies in developmental biology has contributed to a better knowledge of how both genes and environmental exposures impact head organogenesis. Specific causes have now been identified for some forms of cleft l... ...
Clinical Genetics - Tập 61 Số 4 - Trang 248-256 - 2002
Clinical and genetic heterogeneity of amyotrophic lateral sclerosisAlthough clinical picture of amyotrophic lateral sclerosis (ALS ) is a stereotypical one, resulting from combination of signs secondary to dysfunction of both upper motor neuron (UMN) and lower motor neuron (LMN), clinical heterogeneity is a consistent feature of the disease. Age of onset, relative mix of UMN and LMN signs, durat... ...
Clinical Genetics - Tập 83 Số 5 - Trang 408-416 - 2013
Low frequency of RET mutations in Hirschsprung disease in SwedenHirschsprung disease is a congenital malformation, where absence of intramural ganglia in the hindgut results in a defect in the coordination of peristaltic movement. This leads to ileus in the newborn or, more often, constipation in children and adults. The disease affects one in 5000 live births. Siblings of affected cases are at an increased risk (4%) of developing the disease. Among ca... ...
Clinical Genetics - Tập 54 Số 1 - Trang 39-44 - 1998
A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndromeFluorescence in situ hybridization (FISH) analysis can reveal undetected chromosomal rearrangements. We report a patient with cleft palate, hydronephrosis, and minor dysmorphic features, including low‐set posteriorly rotated ears, down‐slanting palpebral fissures, mandibular micrognathia, and brachymesophalangia. Routine chromosome analysis identified no abnormal... ...
Clinical Genetics - Tập 65 Số 5 - Trang 400-404 - 2004
The first nonsense mutation in alsin results in a homogeneous phenotype of infantile‐onset ascending spastic paralysis with bulbar involvement in two siblingsEight mutations in the ALS2 gene have been described as causing autosomal‐recessive juvenile‐onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. All mutations are small deletions that are predicted to result in a frameshift and premature truncation of the alsin protein. Here we descr... ...
Clinical Genetics - Tập 64 Số 3 - Trang 210-215 - 2003
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