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XLMR genes: update 2000.
Chiurazzi P, Hamel BC, Neri G. Chiurazzi P, et al. Among authors: hamel bc. Eur J Hum Genet. 2001 Feb;9(2):71-81. doi: 10.1038/sj.ejhg.5200603. Eur J Hum Genet. 2001. PMID: 11313739 Review.
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
des Portes V, Beldjord C, Chelly J, Hamel B, Kremer H, Smits A, van Bokhoven H, Ropers HH, Claes S, Fryns JP, Ronce N, Gendrot C, Toutain A, Raynaud M, Moraine C. des Portes V, et al. Am J Med Genet. 1999 Jul 30;85(3):263-5. doi: 10.1002/(sici)1096-8628(19990730)85:3<263::aid-ajmg15>3.0.co;2-0. Am J Med Genet. 1999. PMID: 10398240 No abstract available.
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, et al. Ballabio A, et al. Proc Natl Acad Sci U S A. 1989 Dec;86(24):10001-5. doi: 10.1073/pnas.86.24.10001. Proc Natl Acad Sci U S A. 1989. PMID: 2602357 Free PMC article.
Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis.
van Oost BA, van Zandvoort PM, T√ľnte W, Brunner HG, Hoogeboom AJ, Maaswinkel-Mooy PD, Bakkeren J, Hamel B, Ropers HH. van Oost BA, et al. Hum Genet. 1991 Feb;86(4):404-7. doi: 10.1007/BF00201845. Hum Genet. 1991. PMID: 1671851
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T, Hamel BC. Kleefstra T, et al. Among authors: hamel bc. Clin Genet. 2005 Jun;67(6):451-67. doi: 10.1111/j.1399-0004.2005.00434.x. Clin Genet. 2005. PMID: 15857409 Review.
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR).
Van Buggenhout GJ, Trommelen JC, Brunner HG, Hamel BC, Fryns J. Van Buggenhout GJ, et al. Among authors: hamel bc. Ann Genet. 2001 Jan-Mar;44(1):47-55. doi: 10.1016/s0003-3995(01)01038-3. Ann Genet. 2001. PMID: 11334618
Psychometric assessment of families with X-linked mental retardation.
van Roosmalen T, Smits AP, Thoonen GH, Hamel BC, Assman-Hulmans CF, Gabreels FJ. van Roosmalen T, et al. Among authors: hamel bc. Am J Med Genet. 1999 Apr 2;83(4):264-7. doi: 10.1002/(sici)1096-8628(19990402)83:4<264::aid-ajmg6>3.0.co;2-r. Am J Med Genet. 1999. PMID: 10208159
Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.
Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC. Kremer H, et al. Among authors: hamel bc. Hum Genet. 1996 Nov;98(5):513-7. doi: 10.1007/s004390050250. Hum Genet. 1996. PMID: 8882866
Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.
Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC. Hamel BC, et al. Am J Med Genet. 1996 Jul 12;64(1):35-41. doi: 10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826446
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.
Tranebjaerg L, Hamel BC, Gabreels FJ, Renier WO, Van Ghelue M. Tranebjaerg L, et al. Among authors: hamel bc. Eur J Hum Genet. 2000 Jun;8(6):464-7. doi: 10.1038/sj.ejhg.5200483. Eur J Hum Genet. 2000. PMID: 10878669
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