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Literature DB >> 1681728

Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I.

P J Ainsworth, D I Rodenhiser.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1991 PMID： 1681728 PMCID： PMC1683239

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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2 in total

1. Isolation and mapping of a polymorphic DNA sequence pHHH202 on chromosome 17 [D17S33].

Authors: M Hoff; Y Nakamura; T Holm; L Ballard; P O'Connell; M Leppert; G M Lathrop; J M Lalouel; R White
Journal: Nucleic Acids Res Date: 1988-01-25 Impact factor: 16.971

2. Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers.

Authors: K Ward; P O'Connell; J C Carey; M Leppert; S Jolley; R Plaetke; B Ogden; R White
Journal: Am J Hum Genet Date: 1990-05 Impact factor: 11.025

2 in total

9 in total

1. Hereditary spinal neurofibromatosis: a rare form of NF1?

Authors: M Poyhonen; E L Leisti; S Kytölä; J Leisti
Journal: J Med Genet Date: 1997-03 Impact factor: 6.318

2. Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.

Authors: Yunus Kasim Terzi; Burcu Sirin; Guzen Hosgor; Esra Serdaroglu; Banu Anlar; Sabiha Aysun; Sukriye Ayter
Journal: Childs Nerv Syst Date: 2011-12-09 Impact factor: 1.475

3. NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer.

Authors: T Cacev; S Radosević; R Spaventi; K Pavelić; S Kapitanović
Journal: Gut Date: 2005-04-19 Impact factor: 23.059

4. Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

Authors: I Eisenbarth; K Beyer; W Krone; G Assum
Journal: Am J Hum Genet Date: 2000-02 Impact factor: 11.025

5. A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.

Authors: D I Rodenhiser; P J Ainsworth; M B Coulter-Mackie; S M Singh; J H Jung
Journal: J Med Genet Date: 1993-05 Impact factor: 6.318

Rapid nonradioactive detection by PCR of pHHH202/RsaI RFLP linked to neurofibromatosis type I.

1. Isolation and mapping of a polymorphic DNA sequence pHHH202 on chromosome 17 [D17S33].

2. Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers.

1. Hereditary spinal neurofibromatosis: a rare form of NF1?

2. Two pathogenic NF1 gene mutations identified in DNA from a child with mild phenotype.

3. NF1 gene loss of heterozygosity and expression analysis in sporadic colon cancer.

4. Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

5. A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.

6. Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

7. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.

8. Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.

9. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.