Results 251 to 260 of about 19,235 (265)

Compound Heterozygosity for MSH6 Mutations in a Pediatric Lymphoma Patient

Journal of Pediatric Hematology/Oncology, 2009
An 8-year-old male with lymphoblastic lymphoma was noted to have multiple café-au-lait macules and possible Lisch nodules. Work-up revealed the child as compound heterozygous for mutations in the DNA mismatch repair gene, MSH6. This case emphasizes many clinical issues regarding individuals with biallelic mismatch repair mutations, a rare and easily ...
Antoinette, Peters, Hayley, Born, Robert, Ettinger, Peter, Levonian, Kerry Baldwin, Jedele   +4 more
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Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia

Neurobiology of Aging, 2011
Intronic MAPT mutations altering exon 10 splicing lead mainly to an increase of 4Rtau. The objective of this study is to report clinical, genetic, and neuropathological data of an apparently sporadic early onset frontotemporal dementia (FTD) case associated with 2 novel intronic MAPT gene mutations IVS10+4A > C and IVS9-15T > C that increase 3Rtau ...
Maria, Anfossi, Romina, Vuono, Raffaele, Maletta, Kanwar, Virdee, Maria, Mirabelli, Rosanna, Colao, Gianfranco, Puccio, Livia, Bernardi, Francesca, Frangipane, Maura, Gallo, Silvana, Geracitano, Carmine, Tomaino, Sabrina Anna Maria, Curcio, Giuseppa, Zannino, Francesco, Lamenza, Charles, Duyckaerts, Maria Grazia, Spillantini, Maria Adele, Losso, Amalia C, Bruni   +18 more
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Compound Heterozygosity for Hb E-Saskatoon and β-Thalassemia

Hemoglobin, 1991
(1991). Compound Heterozygosity for Hb E-Saskatoon and β-Thalassemia. Hemoglobin: Vol. 15, No. 4, pp. 345-346.
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Compound heterozygosity in a South African patient with Facioscapulohumeral muscular dystrophy

Neuromuscular Disorders, 2012
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by weakness and atrophy of the facial and shoulder girdle muscles. The FSHD phenotype segregates as an autosomal dominant trait and is caused by a deletion of an integral number of 3.3 kilobase pair (kb) repeat units on chromosome 4q35.
Antonel, Olckers, Annelize, van der Merwe, G, Wayne Towers, Chris F, Retief, Engela, Honey, Clara-Maria, Schutte   +5 more
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Hb Lepore (Pylos)/Hb S compounds heterozygosity in two Greek families

American Journal of Hematology, 1995
AbstractWe have studied three compound heterozygotes for Hb Lepore (“Pylos”)/HbS hemoglobin, a combination quite uncommon in the literature. It is of interest that while two of these cases are clinically similar to those thus far reported, the third one is free of symptoms and the diagnosis was put incidentally.
E, Voskaridou, K, Konstantopoulos, P, Kollia, M, Papadakis, D, Loukopoulos   +4 more
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Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency

Biochemical and Biophysical Research Communications, 1991
In a kindred with three hyperlipidemic subjects who had premature atherosclerosis and complete deficiency of hepatic lipase activity, we had previously identified a novel structural hepatic lipase gene variant. We now report the identification of three more hepatic lipase gene mutations in this family and demonstrate that compound heterozygosity for ...
R A, Hegele, J A, Little, P W, Connelly
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Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency

Thrombosis and Haemostasis, 2013
Compound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiency -
Vicente Vicente, Ángel García-Avello, María de la MorenaBarrio, Antonia Miñano, José Padilla, Consuelo Martínez-Redondo, Ana Antón, Pilar Llamas, Miriam Collado, Irene Martínez-Martínez, Sonia Águila, Javier Corral   +11 more
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The effect of population stratification on the frequency of compound heterozygosity

Genetica, 2011
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Compound heterozygosity for haemoglobin S and haemoglobin E

British Journal of Haematology, 2000
R, Gupta, M, Jarvis, A, Yardumian
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Molecular evidence for compound heterozygosity in hereditary fructose intolerance.

American journal of human genetics, 1990
Hereditary fructose intolerance (HFI) is an inborn error of metabolism, inherited as an autosomal recessive disorder and caused by a decrease in the activity of fructose-1-phosphate aldolase (aldolase B) in affected individuals. Investigation of the molecular basis of HFI is reported here by the identification of two molecular lesions in the aldolase B
C, Dazzo, D R, Tolan
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