Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4DEAK, K. L; LEMMERS, R. J. L. F; STAJICH, J. M et al.Neurology. 2007, Vol 68, Num 8, pp 578-582, issn 0028-3878, 5 p.Article

Genetic mapping of a novel familial form of infantile hemangiomaWALTER, J. W; BLEI, F; ANDERSON, J. L et al.American journal of medical genetics. 1999, Vol 82, Num 1, pp 77-83, issn 0148-7299Article

Respiratory muscle involvement in Bethlem myopathyHAQ, R. U; SPEER, M. C; CHU, M.-L et al.Neurology. 1999, Vol 52, Num 1, pp 174-176, issn 0028-3878Article

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23MESSINA, D. N; SPEER, M. C; PERICAK-VANCE, M. A et al.American journal of human genetics. 1997, Vol 61, Num 4, pp 909-917, issn 0002-9297Article

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37SPEER, M. C; TANDAN, R; JAMES, C et al.Human molecular genetics (Print). 1996, Vol 5, Num 7, pp 1043-1046, issn 0964-6906Article

Multilocus mapping of the X-linked hypophosphatemic rickets geneECONS, M. J; BARKER, D. F; SPEER, M. C et al.The Journal of clinical endocrinology and metabolism. 1992, Vol 75, Num 1, pp 201-206, issn 0021-972XArticle

Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 1YAMAOKA, L. H; PERICAK-VANCE, M. A; WALKER, A. P et al.Neurology. 1990, Vol 40, Num 2, pp 222-226, issn 0028-3878Article

Linkage studies of late-onset familial Alzheimer's diseaseROSES, A. D; PERICAK-VANCE, M. A; EARL, N. L et al.Advances in neurology. 1990, Vol 51, pp 185-196, issn 0091-3952, 12 p.Article

Absence of linkage of ABO blood group locus to familial tuberous sclerosisKANDT, R. S; PERICAK-VANCE, M. A; ROSES, A. D et al.Experimental neurology (Print). 1989, Vol 104, Num 3, pp 223-228, issn 0014-4886, 6 p.Article

Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defectsRAMPERSAUD, E; MELVIN, E. C; SIEGEL, D et al.Clinical genetics. 2003, Vol 63, Num 3, pp 210-214, issn 0009-9163, 5 p.Article

Chiari I malformation redefined : Clinical and radiographic findings for 364 symptomatic patientsMILHORAT, T. H; CHOU, M. W; TRINIDAD, E. M et al.Neurosurgery. 1999, Vol 44, Num 5, pp 1005-1017, issn 0148-396XArticle

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7SPEER, M. C; VANCE, J. M; TIM, R. W et al.American journal of human genetics. 1999, Vol 64, Num 2, pp 556-562, issn 0002-9297Article

Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningoceleSANSNEE CHATKUPT; SPEER, M. C; YULAN DING et al.American journal of medical genetics. 1994, Vol 52, Num 1, pp 1-4, issn 0148-7299Article

A microsatellite genetic linkage map of human chromosome 18STRAUB, R. E; SPEER, M. C; YING LUO et al.Genomics (San Diego, Calif.). 1993, Vol 15, Num 1, pp 48-56, issn 0888-7543Article

Flanking markers define the X-linked hypophosphatemic rickets gene locusECONS, M. J; FAIN, P. R; NORMAN, M et al.Journal of bone and mineral research (Print). 1993, Vol 8, Num 9, pp 1149-1152, issn 0884-0431Article

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosone ILAING, N. G; MAJDA, B. T; GROTH, D. M et al.American journal of human genetics. 1992, Vol 50, Num 3, pp 576-583, issn 0002-9297Article

Linkage studies of facioscapulohumeral muscular dystrophy (FSHD)GILBERT, J. R; STAJICH, J. M; PERICAK-VANCE, M. A et al.American journal of human genetics. 1992, Vol 51, Num 2, pp 424-427, issn 0002-9297Article

A StuI polymorphism on chromosome 3p14.1 - 14.2 (D3S622) defined by two polymorphic StuI sites 2.4 kb apartSECORE, S. L; WALKER, A. P; HUNG, W.-Y et al.Nucleic acids research. 1991, Vol 19, Num 22, issn 0305-1048, p. 6349Article

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17VANCE, J. M; NICHOLSON, G. A; YAMAOKA, L. H et al.Experimental neurology (Print). 1989, Vol 104, Num 2, pp 186-189, issn 0014-4886, 4 p.Article

A functional alternative splicing mutation in human tryptophan hydroxylase-2ZHANG, X; NICHOLLS, P. J; AUSTIN, M. C et al.Molecular psychiatry. 2011, Vol 16, Num 12, pp 1169-1176, issn 1359-4184, 8 p.Article

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1STAMM, D. S; POWELL, C. M; SPEER, M. C et al.Neurology. 2008, Vol 71, Num 22, pp 1764-1769, issn 0028-3878, 6 p.Article

A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequencesHORRIGAN, S. K; BARTOLONI, L; SPEER, M. C et al.Genomics (San Diego, Calif.). 1999, Vol 57, Num 1, pp 24-35, issn 0888-7543Article

Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31BARTOLONI, L; HORRIGAN, S. K; VILES, K. D et al.Genomics (San Diego, Calif.). 1998, Vol 54, Num 2, pp 250-255, issn 0888-7543Article

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contracturesJÖBSIS, G. J; KEIZERS, H; VREIJLING, J. P et al.Nature genetics. 1996, Vol 14, Num 1, pp 113-115, issn 1061-4036Article

Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophySPEER, M. C; GILCHRIST, J. M; VANCE, J. M et al.American journal of human genetics. 1995, Vol 57, Num 6, pp 1371-1376, issn 0002-9297Article