Cosegregation of open-angle glaucoma and the nail-patella syndrome

American Journal of Ophthalmology

Volumn 124, Issue 4, 1997, Pages 506-515

  Lichter, P R ^a   Richards, J E ^a   Downs, C A ^a   Stringham, H M ^a   Boehnke, M ^a   Farley, F A ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 9Q; DISEASE ASSOCIATION; DNA DETERMINATION; GENE LOCUS; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; HUMAN TISSUE; NAIL PATELLA SYNDROME; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL;

EID: 0030825171     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(14)70866-9     Document Type: Article

References (38)

1. JW Turner An hereditary arthrodysplasia associated with hereditary dystrophy of the nails JAMA 100 1933 882 884
2. CF Hawkins OE Smith Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns Lancet 1 1950 803 808
3. KJ Guidera Y Satterwhite JA Ogden L Pugh T Ganey Nail-patella syndrome: a review of 44 orthopaedic patients J Pediatr Orthop 11 1991 737 742
4. I McIntosh MV Clough AA Schffer Fine mapping of the nail-patella syndrome locus at 9q34 Am J Hum Genet 60 1997 133 142
5. W Roeckerath Hereditare osteo-onychodysplasie Fortschr Geb Rontgenstr 75 1951 700 712
6. AT Bristow Congenital absence of both patellae Medical News (NY) 70 1897 15 17
7. EM Little Congenital absence or delayed development of the patella Lancet 2 1897 781 784
8. EE Fong “Iliac horns” (symmetrical bilateral central posterior iliac processes) Radiology 47 1946 517 518
9. W Kieser Die sog. Flughaut beim Menschen: ihre Beziehung zum Status dysraphieus und ihre Erblichkeit Ztschr f Menschl Vererb-u Konstitutionslehre 23 1939 594 619
10. P Carbonara M Alpert Hereditary osteo-onycho-dysplasia (HOOD) Am J Med Sci 248 1964 139 151
11. S Simila L Vesa O Wasz-Höckert Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy Pediatrics 46 1970 61 65
12. WM Bennett JE Musgrave RA Campbell The nephropathy of the nail-patella syndrome: clinicopathologic analysis of 11 kindred Am J Med 54 1973 304 319
13. BJ Looij Jr. RL Te Slaa BL Hogewind JJP Van De Kamp Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy J Med Genet 25 1988 682 686
14. RK Beals AL Eckhardt Hereditary onycho-osteodysplasia (nail-patella syndrome): a report of nine kindreds J Bone Joint Surg Am 51 1969 505 516
15. HD Fenske LA Spitalny Hereditary osteo-onychodysplasia Am J Ophthalmol 70 1970 604 608
16. J High MF Macnicol Foot deformities associated with onycho-osteodysplasia Int Orthop 9 1985 135 138
17. VC Sheffield EM Stone WLM Alward Genetic linkage of familial open-angle glaucoma to chromosome Iq21-q31 Nat Genet 4 1993 47 50
18. D Stoilova A Child OC Trifan RP Crick RL Coakes M Sarfarazi Localization of a locus (GLC1B) for adult-onset primary open-angle glaucoma to the 2cen-q13 region Genomics 36 1996 142 150
19. MK Wirtz JR Samples PL Kramer Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q Am J Hum Genet 60 1997 296 304
20. M Sarfarazi AN Akarsu A Hossain Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity Genomics 30 1995 171 177
21. AN Akarsu ME Turacli SG Aktan A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region Hum Mol Genet 5 1996 1199 1203
22. V Raymond Molecular genetics of the glaucomas: mapping of the first five “GLC” loci Am J Hum Genet 60 1997 272 277
23. MAR Yuille RM Hampson RM Harris NA Affara JRW Yates MA Ferguson-Smith CA repeat polymorphism at the ASS locus Nucleic Acids Res 18 1990 7472
24. Accession number X53535 at Genbank, National Center for Biotechnology Information. National Library of Medicine, National Institutes of Health, Bethesda, Maryland. http://www.ncbi.nlm.nih.gov/
25. KB Mullis FA Faloona Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction Methods Enzymol 155 1987 335 350
26. JE Richards PR Lichter M Boehnke Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q Am J Hum Genet 54 1994 62 70
27. AT Johnson JE Richards M Boehnke Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q Ophthalmology 103 1996 808 814
28. PR Lichter JE Richards M Boehnke Juvenile glaucoma linked to the GLC1A gene on chromosome 1q in a Panamanian family Am J Ophthalmol 123 1997 413 416
29. NE Morton Sequential tests for the detection of linkage Am J Hum Genet 7 1955 277 318
30. K Lange D Weeks M Boehnke Programs for pedigree analysis: MENDEL, FISHER, and dGENE Genet Epidemiol 5 1988 471 472
31. M Boehnke Allele frequency estimation from data on relatives Am J Hum Genet 48 1991 22 25
32. Daniel CR III LS Osment RO Noojin Triangular lunulae: a clue to nail-patella syndrome Arch Dermatol 116 1980 448 449
33. AM Lester A familial dyschondroplasia associated with anonychia and other deformities Lancet 2 1936 1519 1521
34. RR Flickinger Jr. BE Spivey Lester's line in hereditary osteo-onychodysplasia Arch Ophthalmol 82 1969 700 703
35. J Caffey Pediatric x-ray diagnosis: a textbook for students and practitioners of pediatrics, surgery and radiology 4th ed. 1961 Year Book Medical Publishers Chicago 1130 1131
36. CP Cottereill P Jacobs Hereditary arthro-osteo-onychodysplasia associated with iliac horns Br J Clin Pract 13 1961 933 941
37. D Darlington CF Hawkins Nail-patella syndrome with iliac horns and hereditary nephropathy: necropsy report and anatomical dissection J Bone Joint Surg Br 49 1967 164 174
38. AM Leys The eye and renal diseases W Tasman EA Jaeger Duane's clinical ophthalmology 5 1996 Lippincott-Raven Philadelphia 1 15 Chapter 31.