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167 results

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Page 1
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.
Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, van Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, Altay C, Gluckman E, Gibson RA, Mathew CG, Arwert F, Joenje H. Lo Ten Foe JR, et al. Among authors: pauli rm. Eur J Hum Genet. 1997 May-Jun;5(3):137-48. Eur J Hum Genet. 1997. PMID: 9272737
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, Breuning MH, ten Kate LP, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick SJ, Pauli RM, Wargowski DS, Devriendt K, Proesmans W, Gabrielli O, Coppa GV, Wesby-van Swaay E, Trembath RC, Schinzel AA, Reardon W, Seemanova E, Engel W. Kohlhase J, et al. Among authors: pauli rm. Am J Hum Genet. 1999 Feb;64(2):435-45. doi: 10.1086/302238. Am J Hum Genet. 1999. PMID: 9973281 Free PMC article.
Pre- and postnatal findings in trisomy 17 mosaicism.
Utermann B, Riegel M, Leistritz D, Karall T, Wisser J, Meisner L, Fauth C, Baldinger R, Johnson J, Erdel M, Taralczak M, Pauli RM, Baumer A, Schinzel A, Kotzot D. Utermann B, et al. Among authors: pauli rm. Am J Med Genet A. 2006 Aug 1;140(15):1628-36. doi: 10.1002/ajmg.a.31319. Am J Med Genet A. 2006. PMID: 16802327
Detection of chromosomal aberrations by a whole-genome microsatellite screen.
Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum K, Pauli RM, Weber J, Biesecker LG. Rosenberg MJ, et al. Among authors: pauli rm. Am J Hum Genet. 2000 Feb;66(2):419-27. doi: 10.1086/302743. Am J Hum Genet. 2000. PMID: 10677301 Free PMC article.
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Rosenberg MJ, et al. Hum Genet. 2001 Sep;109(3):311-8. doi: 10.1007/s004390100559. Hum Genet. 2001. PMID: 11702212
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Hoover-Fong J, Sobreira N, Jurgens J, Modaff P, Blout C, Moser A, Kim OH, Cho TJ, Cho SY, Kim SJ, Jin DK, Kitoh H, Park WY, Ling H, Hetrick KN, Doheny KF, Valle D, Pauli RM. Hoover-Fong J, et al. Among authors: pauli rm. Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. Am J Hum Genet. 2014. PMID: 24387990 Free PMC article. No abstract available.
Unexpected familial recurrence in Angelman syndrome.
Connerton-Moyer KJ, Nicholls RD, Schwartz S, Driscoll DJ, Hendrickson JE, Williams CA, Pauli RM. Connerton-Moyer KJ, et al. Among authors: pauli rm. Am J Med Genet. 1997 Jun 13;70(3):253-60. doi: 10.1002/(sici)1096-8628(19970613)70:3<253::aid-ajmg8>3.0.co;2-x. Am J Med Genet. 1997. PMID: 9188662
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".
Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics; Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM. Lee CS, et al. Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019. Am J Hum Genet. 2017. PMID: 29100092 Free PMC article.
167 results