Literature DB >> 2127432

A 90 kb DNA deletion associated with neurofibromatosis type 1.

M Upadhyaya1, A Cheryson, W Broadhead, A Fryer, D J Shaw, S Huson, M R Wallace, L B Andersen, D A Marchuk, D Viskochil.   

Abstract

A deletion of 90 kb of DNA has been identified in a patient with neurofibromatosis type 1, using pulsed field gel electrophoresis. The deletion lies between probes 17L1A and AC5 in the critical region of chromosome 17 and represents the only molecular alteration found by PFGE in a series of 90 unrelated patients. The subject showing the deletion is an isolated case, shows typical clinical features, and represents one of the first examples of a molecular deletion to be found in this disorder.

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Year:  1990        PMID： 2127432      PMCID： PMC1017276          DOI： 10.1136/jmg.27.12.738

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  Close flanking markers for neurofibromatosis type I (NF1).

Authors:  M Upadhyaya; M Sarfarazi; S M Huson; W Broadhead; A Fryer; P S Harper
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

2.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

3.  Identification and characterization of transcripts from the neurofibromatosis 1 region: the sequence and genomic structure of EVI2 and mapping of other transcripts.

Authors:  R M Cawthon; P O'Connell; A M Buchberg; D Viskochil; R B Weiss; M Culver; J Stevens; N A Jenkins; N G Copeland; R White
Journal:  Genomics       Date:  1990-08       Impact factor: 5.736

4.  Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene.

Authors:  B R Seizinger; G A Rouleau; L J Ozelius; A H Lane; A G Faryniarz; M V Chao; S Huson; B R Korf; D M Parry; M A Pericak-Vance
Journal:  Cell       Date:  1987-06-05       Impact factor: 41.582

5.  Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

Authors: 
Journal:  Arch Neurol       Date:  1988-05

Review 6.  Progress towards identifying the neurofibromatosis (NF1) gene.

Authors:  F S Collins; P O'Connell; B A Ponder; B R Seizinger
Journal:  Trends Genet       Date:  1989-07       Impact factor: 11.639

7.  Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17.

Authors:  D Barker; E Wright; K Nguyen; L Cannon; P Fain; D Goldgar; D T Bishop; J Carey; B Baty; J Kivlin
Journal:  Science       Date:  1987-05-29       Impact factor: 47.728

8.  Physical mapping of a translocation breakpoint in neurofibromatosis.

Authors:  J W Fountain; M R Wallace; M A Bruce; B R Seizinger; A G Menon; J F Gusella; V V Michels; M A Schmidt; G W Dewald; F S Collins
Journal:  Science       Date:  1989-06-02       Impact factor: 47.728

9.  Two NF1 translocations map within a 600-kilobase segment of 17q11.2.

Authors:  P O'Connell; R Leach; R M Cawthon; M Culver; J Stevens; D Viskochil; R E Fournier; D C Rich; D H Ledbetter; R White
Journal:  Science       Date:  1989-06-02       Impact factor: 47.728

10.  Precise localization of NF1 to 17q11.2 by balanced translocation.

Authors:  D H Ledbetter; D C Rich; P O'Connell; M Leppert; J C Carey
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025
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  14 in total

1.  Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features.

Authors:  F Faravelli; M Upadhyaya; M Osborn; S M Huson; R Hayward; R Winter
Journal:  J Med Genet       Date:  1999-12       Impact factor: 6.318

2.  A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.

Authors:  M Upadhyaya; S H Roberts; J Maynard; E Sorour; P W Thompson; M Vaughan; A O Wilkie; H E Hughes
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

Review 3.  Clinical and genetic patterns of neurofibromatosis 1 and 2.

Authors:  N K Ragge
Journal:  Br J Ophthalmol       Date:  1993-10       Impact factor: 4.638

4.  Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.

Authors:  L M Kayes; V M Riccardi; W Burke; R L Bennett; K Stephens
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

5.  A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene.

Authors:  M Stark; G Assum; W Krone
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

6.  Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Authors:  M Tassabehji; T Strachan; M Sharland; A Colley; D Donnai; R Harris; N Thakker
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

Authors:  M Upadhyaya; J Maynard; M Osborn; S M Huson; M Ponder; B A Ponder; P S Harper
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

8.  Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1.

Authors:  M Upadhyaya; A Fryer; J MacMillan; W Broadhead; S M Huson; P S Harper
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

9.  A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity.

Authors:  L B Andersen; R Ballester; D A Marchuk; E Chang; D H Gutmann; A M Saulino; J Camonis; M Wigler; F S Collins
Journal:  Mol Cell Biol       Date:  1993-01       Impact factor: 4.272

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

Authors:  S A Rasmussen; S D Colman; V T Ho; C R Abernathy; P H Arn; L Weiss; C Schwartz; R A Saul; M R Wallace
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318
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