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Results: 1-14 |
Results: 14
Asymmetry
Authors: Gorlin, RJ
Citation: Rj. Gorlin, Asymmetry, AM J MED G, 101(4), 2001, pp. 290-291
PTEN mutations and Proteus syndrome - Reply
Authors: Eng, C Thiele, H Zhou, XP Gorlin, RJ Hennekam, RCM Winter, RM
Citation: C. Eng et al., PTEN mutations and Proteus syndrome - Reply, LANCET, 358(9298), 2001, pp. 2079-2080
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes
Authors: Zhou, XP Hampel, H Thiele, H Gorlin, RJ Hennekam, RCM Parisi, M Winter, RM Eng, C
Citation: Xp. Zhou et al., Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes, LANCET, 358(9277), 2001, pp. 210-211
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
Authors: Reichenberger, E Tiziani, V Watanabe, S Park, L Ueki, Y Santanna, C Baur, ST Shiang, R Grange, DK Beighton, P Gardner, J Hamersma, H Sellars, S Ramesar, R Lidral, AC Sommer, A do Amaral, CMR Gorlin, RJ Mulliken, JB Olsen, BR
Citation: E. Reichenberger et al., Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK, AM J HU GEN, 68(6), 2001, pp. 1321-1326
What syndrome is this? Gorlin syndrome
Authors: Crutchfield, CE Geiger, J Gorlin, RJ Ahmed, I
Citation: Ce. Crutchfield et al., What syndrome is this? Gorlin syndrome, PEDIAT DERM, 17(6), 2000, pp. 484-486
Witkop's theory should be scrapped
Authors: Gorlin, RJ
Citation: Rj. Gorlin, Witkop's theory should be scrapped, AM J MED G, 93(2), 2000, pp. 165-165
Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family
Authors: Al Aqeel, A Al Sewairi, W Edress, B Gorlin, RJ Desnick, RJ Martignetti, JA
Citation: A. Al Aqeel et al., Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family, AM J MED G, 93(1), 2000, pp. 11-18
WHIM syndrome, an autosomal dominant disorder: Clinical, hematological, and molecular studies
Authors: Gorlin, RJ Gelb, B Diaz, GA Lofsness, KG Pittelkow, MR Fenyk, JR
Citation: Rj. Gorlin et al., WHIM syndrome, an autosomal dominant disorder: Clinical, hematological, and molecular studies, AM J MED G, 91(5), 2000, pp. 368-376
Whistling face syndrome with normal hands
Authors: Gorlin, RJ
Citation: Rj. Gorlin, Whistling face syndrome with normal hands, AM J MED G, 90(3), 2000, pp. 255-255
Of palms, soles, and gums
Authors: Gorlin, RJ
Citation: Rj. Gorlin, Of palms, soles, and gums, J MED GENET, 37(2), 2000, pp. 81-82
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome
Authors: Marsh, DJ Kum, JB Lunetta, KL Bennett, MJ Gorlin, RJ Ahmed, SF Bodurtha, J Crowe, C Curtis, MA Dasouki, M Dunn, T Feit, H Geraghty, MT Graham, JM Hodgson, SV Hunter, A Korf, BR Manchester, D Miesfeldt, S Murday, VA Nathanson, KL Parisi, M Pober, B Romano, C Tolmie, JL Trembath, R Winter, RM Zackai, EH Zori, RT Weng, LP Dahia, PLM Eng, C
Citation: Dj. Marsh et al., PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome, HUM MOL GEN, 8(8), 1999, pp. 1461-1472
Robinow (fetal face) syndrome: Report of a boy with dominant type and an infant with recessive type
Authors: Kantaputra, PN Gorlin, RJ Ukarapol, N Unachak, K Sudasna, J
Citation: Pn. Kantaputra et al., Robinow (fetal face) syndrome: Report of a boy with dominant type and an infant with recessive type, AM J MED G, 84(1), 1999, pp. 1-7
Patient described by Chun et al. may not present Antley-Bixler syndrome
Authors: Gorlin, RJ
Citation: Rj. Gorlin, Patient described by Chun et al. may not present Antley-Bixler syndrome, AM J MED G, 83(1), 1999, pp. 64-64
Nevoid basal cell carcinoma (Gorlin) syndrome: Unanswered issues
Authors: Gorlin, RJ
Citation: Rj. Gorlin, Nevoid basal cell carcinoma (Gorlin) syndrome: Unanswered issues, J LA CL MED, 134(6), 1999, pp. 551-552
Risultati: 1-14 |