Genetic counseling for patients with birgh defectsAYLSWORTH, A. S.The Pediatric clinics of North America. 1992, Vol 39, Num 2, pp 229-253, issn 0031-3955Article

MANNOSIDOSIS: DEFICIENCY OF A SPECIFIC ALPHA -MANNOSIDASE COMPOUND IN CULTURED FIBROBLASTS = MANNOSIDOSE: DEFICIENCE D'UNE ALPHA -MANNOSIDASE SPECIFIQUE DANS LES FIBROBLASTES CULTIVESTAYLOR HA; THOMAS GH; AYLSWORTH A et al.1975; CLIN. CHIM. ACTA; PAYS-BAS; DA. 1975; VOL. 59; NO 1; PP. 93-99; BIBL. 12REF.Article

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2GUTMANN, D. H; AYLSWORTH, A; CAREY, J. C et al.JAMA, the journal of the American Medical Association. 1997, Vol 278, Num 1, pp 51-57, issn 0098-7484Article

Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10RAMPERSAUD, E; BASSUK, A. G; BODURTHA, J et al.Journal of medical genetics. 2005, Vol 42, Num 12, pp 940-946, issn 0022-2593, 7 p.Article

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 anc CHMMAY, M; COLLEAUX, L; MURGIA, A et al.Human molecular genetics (Print). 1995, Vol 4, Num 8, pp 1465-1466, issn 0964-6906Article

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24GLADWIN, A; DONNAI, D; METCALFE, K et al.Human molecular genetics (Print). 1997, Vol 6, Num 1, pp 123-127, issn 0964-6906Article

Chromosomal abnormalities associated with congenital contractures (arthrogryposis)REED, S. D; HALL, J. G; RICCARDI, V. M et al.Clinical genetics. 1985, Vol 27, Num 4, pp 353-372, issn 0009-9163Article

Nager acrofacial dysostosis : male-to-male transmission in 2 familiesAYLSWORTH, A. S; LIN, A. E; FRIEDMAN, P. A et al.American journal of medical genetics. 1991, Vol 41, Num 1, pp 83-88, issn 0148-7299Article

Townes-Brocks syndrome in two mentally retarded youngstersCAMERON, T. H; LACHIEWICZ, A. M; AYLSWORTH, A. S et al.American journal of medical genetics. 1991, Vol 41, Num 1, pp 1-4, issn 0148-7299Article

Iniencephaly is not uniformly fatalKATZ, V. L; AYLSWORTH, A. S; ALBRIGHT, S. G et al.Prenatal diagnosis. 1989, Vol 9, Num 8, pp 595-599, issn 0197-3851Article

A mild autosomal recessive form of osteopetrosisKAHLER, S. G; BURNS, J. A; AYLSWORTH, A. S et al.American journal of medical genetics. 1984, Vol 17, Num 2, pp 451-464, issn 0148-7299Article

A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS)DU, Y.-Z; DICKERSON, C; AYLSWORTH, A. S et al.Journal of medical genetics. 1998, Vol 35, Num 6, pp 456-462, issn 0022-2593Article

Prenatal exposure to disulfiram implicated in the cause of malformations in discordant monozygotic twinsREITNAUER, P. J; CALLANAN, N. P; FARBER, R. A et al.Teratology (Philadelphia, PA). 1997, Vol 56, Num 6, pp 358-362, issn 0040-3709Conference Paper

Similarities of EEG and seizures in del(1q) and benign rolandic epilepsyVAUGHN, B. V; GREENWOOD, R. S; AYLSWORTH, A. S et al.Pediatric neurology. 1996, Vol 15, Num 3, pp 261-264, issn 0887-8994Article

Declining IQs of young males with the fragile X syndromeLACHIFEWICZ, A. M; GULLION, C. M; SPIRIDIGLIOZZI, G. A et al.American journal of mental retardation. 1987, Vol 92, Num 3, pp 272-278Article

Vascular basis for neural tube defects: a hypothesisSTEVENSON, R. E; KELLY, J. C; AYLSWORTH, A. S et al.Pediatrics (Evanston). 1987, Vol 80, Num 1, pp 102-106, issn 0031-4005Article

Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del(Xq)WELLS, S. R; KULLER, J. A; RAO, K. W et al.Clinical genetics. 1996, Vol 49, Num 4, pp 216-219, issn 0009-9163Article

Neurological aspects of del(1q) syndromeMURAYAMA, K; GREENWOOD, R. S; RAO, K. W et al.American journal of medical genetics. 1991, Vol 40, Num 4, pp 488-492, issn 0148-7299Article

Brief clinical report : Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3)ESTABROOKS, L. L; RAO, K. W; DONAHUE, R. P et al.American journal of medical genetics. 1990, Vol 36, Num 3, pp 306-309, issn 0148-7299, 4 p.Article

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotypeTARLETON, J; RICHIE, R; SCHWARTZ, C et al.Human molecular genetics (Print). 1993, Vol 2, Num 11, pp 1973-1974, issn 0964-6906Article

Monozygotic twins discordant for partial trisomy 1WATSON, W. J; KATZ, V. L; ALBRIGHT, S. G et al.Obstetrics and gynecology (New York. 1953). 1990, Vol 76, Num 5, pp 949-951, issn 0029-7844, 3 p., 2Article

Monozygotic twins discordant for partial trisomy 1WATSON, W. J; KATZ, V. L; ALBRIGHT, S. G et al.Obstetrics and gynecology (New York. 1953). 1990, Vol 76, Num 5, pp 949-951, issn 0029-7844, 2Article

Oculoauriculovertebral abnormalities in children of diabetic mothersEWART-TOLAND, A; YANKOWITZ, J; WINDER, A et al.American journal of medical genetics. 2000, Vol 90, Num 4, pp 303-309, issn 0148-7299Article

Prenatal diagnosis of a severe deforming type of osteogenesis imperfectaAYLSWORTH, A. S; SEEDS, J. W; GUILFORD, W. B et al.American journal of medical genetics. 1984, Vol 19, Num 4, pp 707-714, issn 0148-7299Article

Radioloigcal findings in Hallermann-Streiff syndrome : report of five cases and a review of the literatureCHRISTIAN, C. L; LACHMAN, R. S; AYLSWORTH, A. S et al.American journal of medical genetics. 1991, Vol 41, Num 4, pp 508-514, issn 0148-7299Conference Paper