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Results: 1-25 | 26-26
Results: 1-25/26
Considerations for a multiaxis nomenclature system for medical genetics
Authors: Robin, NH Biesecker, LG
Citation: Nh. Robin et Lg. Biesecker, Considerations for a multiaxis nomenclature system for medical genetics, GENET MED, 3(4), 2001, pp. 290-293
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
Authors: Nishimura, DY Searby, CC Carmi, R Elbedour, K Van Maldergem, L Fulton, AB Lam, BL Powell, BR Swiderski, RE Bugge, KE Haider, NB Kwitek-Black, AE Ying, LH Duhl, DM Gorman, SW Heon, E Iannaccone, A Bonneau, D Biesecker, LG Jacobson, SG Stone, EM Sheffield, VC
Citation: Dy. Nishimura et al., Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2), HUM MOL GEN, 10(8), 2001, pp. 865-874
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
Authors: Rosenberg, MJ Killoran, C Dziadzio, L Chang, S Stone, DL Meck, J Aughton, D Bird, LM Bodurtha, J Cassidy, SB Graham, JM Grix, A Guttmacher, AE Hudgins, L Kozma, C Michaelis, RC Pauli, R Peters, KF Rosenbaum, KN Tifft, CJ Wargowski, D Williams, MS Biesecker, LG
Citation: Mj. Rosenberg et al., Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations, HUM GENET, 109(3), 2001, pp. 311-318
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome
Authors: Feuillan, P Peters, KF Cutler, GB Biesecker, LG
Citation: P. Feuillan et al., Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome, J PED END M, 14(2), 2001, pp. 141-149
Unfolding the role of chaperones and chaperonins in human disease
Authors: Slavotinek, AM Biesecker, LG
Citation: Am. Slavotinek et Lg. Biesecker, Unfolding the role of chaperones and chaperonins in human disease, TRENDS GEN, 17(9), 2001, pp. 528-535
Long-term treatment with growth hormone improves final height in a patientwith Pallister-Hall syndrome
Authors: Galasso, C Scire, G Fabbri, F Spadoni, GL Killoran, CE Biesecker, LG Boscherini, B
Citation: C. Galasso et al., Long-term treatment with growth hormone improves final height in a patientwith Pallister-Hall syndrome, AM J MED G, 99(2), 2001, pp. 128-131
Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes
Authors: Rosenthal, ET Biesecker, LG Biesecker, BB
Citation: Et. Rosenthal et al., Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes, AM J MED G, 103(2), 2001, pp. 106-114
Reply to Shaffer regarding reply to "Burning down DEFECT11"
Authors: Biesecker, LG Pelz, D
Citation: Lg. Biesecker et D. Pelz, Reply to Shaffer regarding reply to "Burning down DEFECT11", AM J MED G, 103(2), 2001, pp. 181-181
PTEN mutations and Proteus syndrome
Authors: Biesecker, LG Rosenberg, MJ Vacha, S Turner, JT Cohen, MM
Citation: Lg. Biesecker et al., PTEN mutations and Proteus syndrome, LANCET, 358(9298), 2001, pp. 2079-2079
The multifaceted challenges of Proteus syndrome
Authors: Biesecker, LG
Citation: Lg. Biesecker, The multifaceted challenges of Proteus syndrome, J AM MED A, 285(17), 2001, pp. 2240-2243
Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma
Authors: Frattali, CM Liow, K Craig, GH Korenman, LM Makhlouf, F Sato, S Biesecker, LG Theodore, WH
Citation: Cm. Frattali et al., Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma, NEUROLOGY, 57(1), 2001, pp. 43-46
Inverse inbreeding coefficient problems with an application to linkage analysis of recessive diseases in inbred populations
Authors: Agarwala, R Biesecker, LG Schaffer, AA
Citation: R. Agarwala et al., Inverse inbreeding coefficient problems with an application to linkage analysis of recessive diseases in inbred populations, DISCR APP M, 104(1-3), 2000, pp. 3-44
To the editor
Authors: Biesecker, LG
Citation: Lg. Biesecker, To the editor, GENET MED, 2(3), 2000, pp. 203-203
Mutations in MKKS cause Bardet-Biedl syndrome
Authors: Slavotinek, AM Stone, EM Mykytyn, K Heckenlively, JR Green, JS Heon, E Musarella, MA Parfrey, PS Sheffield, VC Biesecker, LG
Citation: Am. Slavotinek et al., Mutations in MKKS cause Bardet-Biedl syndrome, NAT GENET, 26(1), 2000, pp. 15-16
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
Authors: Stone, DL Slavotinek, R Bouffard, GG Banerjee-Basu, S Baxevanis, AD Barr, M Biesecker, LG
Citation: Dl. Stone et al., Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome, NAT GENET, 25(1), 2000, pp. 79-82
Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review
Authors: Slavotinek, AM Biesecker, LG
Citation: Am. Slavotinek et Lg. Biesecker, Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review, AM J MED G, 95(3), 2000, pp. 208-215
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome
Authors: Ondrey, F Griffith, A Van Waes, C Rudy, S Peters, K McCullagh, L Biesecker, LG
Citation: F. Ondrey et al., Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome, AM J MED G, 94(1), 2000, pp. 64-67
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB
Authors: Liu, J Litman, D Rosenberg, MJ Yu, SH Biesecker, LG Weinstein, LS
Citation: J. Liu et al., A GNAS1 imprinting defect in pseudohypoparathyroidism type IB, J CLIN INV, 106(9), 2000, pp. 1167-1174
Sudden death caused by pulmonary thromboembolism in Proteus syndrome
Authors: Slavotinek, AM Vacha, SJ Peters, KF Biesecker, LG
Citation: Am. Slavotinek et al., Sudden death caused by pulmonary thromboembolism in Proteus syndrome, CLIN GENET, 58(5), 2000, pp. 386-389
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical andmolecular analysis
Authors: Killoran, CE Abbott, M McKusick, VA Biesecker, LG
Citation: Ce. Killoran et al., Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical andmolecular analysis, CLIN GENET, 58(1), 2000, pp. 28-30
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
Authors: Johnston, JJ Kelley, RI Crawford, TO Morton, DH Agarwala, R Koch, T Schaffer, AA Francomano, CA Biesecker, LG
Citation: Jj. Johnston et al., A novel nemaline myopathy in the Amish caused by a mutation in troponin T1, AM J HU GEN, 67(4), 2000, pp. 814-821
Detection of chromosomal aberrations by a whole-genome microsatellite screen
Authors: 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
Citation: Mj. Rosenberg et al., Detection of chromosomal aberrations by a whole-genome microsatellite screen, AM J HU GEN, 66(2), 2000, pp. 419-427
Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls
Authors: Shotelersuk, V Tifft, CJ Vacha, S Peters, KF Biesecker, LG
Citation: V. Shotelersuk et al., Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls, AM J MED G, 86(3), 1999, pp. 269-273
Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources
Authors: Agarwala, R Biesecker, LG Tomlin, JF Schaffer, AA
Citation: R. Agarwala et al., Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources, AM J MED G, 86(2), 1999, pp. 156-161
Proteus syndrome: Diagnostic criteria, differential diagnosis, and patientevaluation
Authors: Biesecker, LG Happle, R Mulliken, JB Weksberg, R Graham, JM Viljoen, DL Cohen, MM
Citation: Lg. Biesecker et al., Proteus syndrome: Diagnostic criteria, differential diagnosis, and patientevaluation, AM J MED G, 84(5), 1999, pp. 389-395
Risultati: 1-25 | 26-26