Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?

Human Mutation

Volumn 9, Issue 5, 1997, Pages 458-464

  Cnossen, Marjon H ^a   Van Der Est, Mieke N ^a   Breuning, Martijn H ^a   Van Asperen, Christi J ^b   Breslau Siderius, Elisabeth J ^c   Van Der Ploeg, Ans T ^a   De Goede Bolder, Arja ^a   Van Den Ouweland, Ans M W ^a   Halley, Dicky J J ^a   Niermeijer, Martinus F ^a  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

dysmorphic features; entire gene deletions; intellectual impairment; neurofibromatosis type 1; severe phenotype

Indexed keywords

MICROSATELLITE DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL FEATURE; DNA DETERMINATION; DNA POLYMORPHISM; FEMALE; GENE DELETION; GENETIC SCREENING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROFIBROMATOSIS; PHENOTYPE; PRIORITY JOURNAL; SOUTHERN BLOTTING;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; CHILD; DNA, SATELLITE; FEMALE; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; GENOMIC IMPRINTING; GENOTYPE; HUMANS; MALE; PHENOTYPE;

EID: 16944364739     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1     Document Type: Article

References (7)

1. Andersen LB, Tarlé SA, Marchuk DA, Legius E, Collins FS (1993b) A compound nucleotide repeat in the neurofibromatosis (NF1) gene. Hum Molec Genet 2:1083.
2. Duncan WJ, Fowler RS, Farkas LG, Ross RB, Wright AW, Bloom KR, Huot DJ, Sondheimer HM, Rowe RD (1981) A comprehensive scoring system for evaluating Noonan syndrome. Am J Med Genet 10:37-50.
3. Easton DF, Ponder MA, Huson SM, Ponder BAJ (1993) An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): Evidence for modifying genes. Am J Hum Genet 53: 305-313.
4. Godfrey M (1994) From fluorescence of gene: The skin in the Marfan syndrome (Review). J Invest Dermat 103(5 Suppl): 58S-62S.
5. Hoffmeyer S, Assum G (1994) An RsaI polymorphism in the transcribed region if the Neurofibromatosis (NF1) gene. Hum Genet 93:481-482.
6. Shen M, Upadhyaya M (1995) Two single base polymorphisms in introns 41 and 16 of the NF1 gene. Am J Med Genetic 60: 147-149.
7. Smalley SL, Burger F, Smith M (1994) Phenotypic variation of tuberous sclerosis in a single extended kindred. J Med Genet 31:761-765.