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Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations.
DiLiberti JH, Weleber RG, Budden S. DiLiberti JH, et al. Among authors: weleber rg. Am J Med Genet. 1983 Jul;15(3):491-5. doi: 10.1002/ajmg.1320150315. Am J Med Genet. 1983. PMID: 6881215
Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.
Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R. Magenis RE, et al. Among authors: weleber r. Am J Med Genet. 1988 Jan;29(1):9-19. doi: 10.1002/ajmg.1320290103. Am J Med Genet. 1988. PMID: 3344779
Ruvalcaba-Myhre-Smith syndrome.
Gretzula JC, Hevia O, Schachner LS, DiLiberti JH, Ruvalcaba RH, Schimschock JR, Weleber RG, Halal F, Lipson MH, Blumberg B, et al. Gretzula JC, et al. Among authors: weleber rg. Pediatr Dermatol. 1988 Feb;5(1):28-32. doi: 10.1111/j.1525-1470.1988.tb00880.x. Pediatr Dermatol. 1988. PMID: 3380760
Tandem duplication of proximal 22q: a cause of cat-eye syndrome.
Reiss JA, Weleber RG, Brown MG, Bangs CD, Lovrien EW, Magenis RE. Reiss JA, et al. Among authors: weleber rg. Am J Med Genet. 1985 Jan;20(1):165-71. doi: 10.1002/ajmg.1320200120. Am J Med Genet. 1985. PMID: 3970068
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome.
Atchaneeyasakul LO, Linck LM, Connor WE, Weleber RG, Steiner RD. Atchaneeyasakul LO, et al. Among authors: weleber rg. Am J Med Genet. 1998 Dec 28;80(5):501-5. doi: 10.1002/(sici)1096-8628(19981228)80:5<501::aid-ajmg12>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9880216
Molecular genetic heterogeneity in autosomal dominant drusen.
Tarttelin EE, Gregory-Evans CY, Bird AC, Weleber RG, Klein ML, Blackburn J, Gregory-Evans K. Tarttelin EE, et al. Among authors: weleber rg. J Med Genet. 2001 Jun;38(6):381-4. doi: 10.1136/jmg.38.6.381. J Med Genet. 2001. PMID: 11389162 Free PMC article.
Iris hamartomas (Lisch nodules) in a case of segmental neurofibromatosis.
Weleber RG, Zonana J. Weleber RG, et al. Am J Ophthalmol. 1983 Dec;96(6):740-3. doi: 10.1016/s0002-9394(14)71917-8. Am J Ophthalmol. 1983. PMID: 6419615
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Pillers DA, Weleber RG, Powell BR, Hanna CE, Magenis RE, Buist NR. Pillers DA, et al. Among authors: weleber rg. Am J Med Genet. 1990 May;36(1):23-8. doi: 10.1002/ajmg.1320360106. Am J Med Genet. 1990. PMID: 2159212
Age-related macular degeneration--a genome scan in extended families.
Majewski J, Schultz DW, Weleber RG, Schain MB, Edwards AO, Matise TC, Acott TS, Ott J, Klein ML. Majewski J, et al. Among authors: weleber rg. Am J Hum Genet. 2003 Sep;73(3):540-50. doi: 10.1086/377701. Epub 2003 Jul 25. Am J Hum Genet. 2003. PMID: 12900797 Free PMC article.
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, L├╝leci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: weleber rg. Am J Hum Genet. 2003 Feb;72(2):429-37. doi: 10.1086/346172. Epub 2003 Jan 10. Am J Hum Genet. 2003. PMID: 12524598 Free PMC article.
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