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A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B. Wieczorek D, et al. Among authors: vargas fr. Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142. Hum Mutat. 2010. PMID: 19847792
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead AS, Kirke PN, Mills JL, Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham ML, Canún S, Antonarakis SE, Strachan T, Tsui LC, Scherer SW, Muenke M. Vargas FR, et al. Hum Genet. 1998 Apr;102(4):387-92. doi: 10.1007/s004390050709. Hum Genet. 1998. PMID: 9600232 Review.
Xp-duplications with and without sex reversal.
Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Júnior JC, Vogel W, Just W. Baumstark A, et al. Among authors: vargas fr. Hum Genet. 1996 Jan;97(1):79-86. doi: 10.1007/BF00218838. Hum Genet. 1996. PMID: 8557267 Review.
Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.
Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, Brugiéres L, Vargas FR, Brentani RR, Ashton-Prolla P, Landi S, Tavtigian SV, Hainaut P, Achatz MI. Garritano S, et al. Among authors: vargas fr. Hum Mutat. 2010 Feb;31(2):143-50. doi: 10.1002/humu.21151. Hum Mutat. 2010. PMID: 19877175
RAPADILINO syndrome.
Vargas FR, de Almeida JC, Llerena Júnior JC, Reis DF. Vargas FR, et al. Am J Med Genet. 1992 Dec 1;44(6):716-9. doi: 10.1002/ajmg.1320440604. Am J Med Genet. 1992. PMID: 1481838 Review.
Autosomal dominant osteosclerosis type Stanescu: the third family.
Horovitz DD, Barbosa Neto JG, Boy R, Vargas FR, Llerena Júnior JC, de Almeida JC. Horovitz DD, et al. Among authors: vargas fr. Am J Med Genet. 1995 Jul 17;57(4):605-9. doi: 10.1002/ajmg.1320570418. Am J Med Genet. 1995. PMID: 7573138
C syndrome and omphalocele: another example.
de Almeida JC, Llerena Júnior JC, Alonso MR, Vargas FR. de Almeida JC, et al. Among authors: vargas fr. Am J Med Genet. 1992 Oct 1;44(3):385. doi: 10.1002/ajmg.1320440324. Am J Med Genet. 1992. PMID: 1362631 No abstract available.
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