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Results: 101-125/6545
Authors:
Carrel, T
Herman, GE
Moore, GE
Stanier, P
Citation: T. Carrel et al., Lack of mutations in ZIC3 in three families with neural tube defects, AM J MED G, 98(3), 2001, pp. 283-285
Authors:
Tandoi, C
Botta, A
Fini, G
Sangiuolo, F
Novelli, G
Ricci, R
Zampino, G
Anichini, C
Dallapiccola, B
Citation: C. Tandoi et al., Exclusion of the elastin gene in the pathogenesis of Costello syndrome, AM J MED G, 98(3), 2001, pp. 286-287
Authors:
Makrydimas, G
Souka, A
Skentou, H
Lolis, D
Nicolaides, K
Citation: G. Makrydimas et al., Osteogenesis imperfecta and other skeletal dysplasias presenting with increased nuchal translucency in the first trimester, AM J MED G, 98(2), 2001, pp. 117-120
Authors:
Hisama, FM
Zemel, S
Cherniske, EM
Vladutiu, GD
Pober, BR
Citation: Fm. Hisama et al., New syndrome? 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters, AM J MED G, 98(2), 2001, pp. 121-124
Authors:
de la Chesnaye, E
Canto, P
Ulloa-Aguirre, A
Mendez, JP
Citation: E. De La Chesnaye et al., No evidence of mutations in the follicle-stimulating hormone receptor genein Mexican women with 46,XX pure gonadal dysgenesis, AM J MED G, 98(2), 2001, pp. 125-128
Authors:
Resendes, BL
Sohn, SH
Stelling, JR
Tineo, R
Davis, AJ
Gray, MR
Reindollar, RH
Citation: Bl. Resendes et al., Role for anti-Mullerian hormone in congenital absence of the uterus and vagina, AM J MED G, 98(2), 2001, pp. 129-136
Authors:
Walsh, LE
Vance, GH
Weaver, DD
Citation: Le. Walsh et al., Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications, AM J MED G, 98(2), 2001, pp. 137-144
Authors:
Noce, TR
de Pina-Neto, JM
Happle, R
Citation: Tr. Noce et al., Phylloid pattern of pigmentary disturbance in a case of complex mosaicism, AM J MED G, 98(2), 2001, pp. 145-147
Authors:
Barker, DF
Denison, JC
Atkin, CL
Gregory, MC
Citation: Df. Barker et al., Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP, AM J MED G, 98(2), 2001, pp. 148-160
Authors:
Irwin, SA
Patel, B
Idupulapati, M
Harris, JB
Crisostomo, RA
Larsen, BP
Kooy, F
Willems, PJ
Cras, P
Kozlowski, PB
Swain, RA
Weiler, IJ
Greenough, WT
Citation: Sa. Irwin et al., Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination, AM J MED G, 98(2), 2001, pp. 161-167
Authors:
Kozma, C
Citation: C. Kozma, Valproic acid embryopathy: Report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature, AM J MED G, 98(2), 2001, pp. 168-175
Authors:
Giordano, J
Prior, HM
Bamforth, JS
Walter, MA
Citation: J. Giordano et al., Genetic study of SOX9 in a case of campomelic dysplasia, AM J MED G, 98(2), 2001, pp. 176-181
Authors:
Ivanovich, JL
Watson, MS
Whelan, AJ
Citation: Jl. Ivanovich et al., An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root, AM J MED G, 98(2), 2001, pp. 182-184
Authors:
Matsune, K
Shimizu, T
Tohma, T
Asada, Y
Ohashi, H
Maeda, T
Citation: K. Matsune et al., Craniofacial and dental characteristics of Kabuki syndrome, AM J MED G, 98(2), 2001, pp. 185-190
Authors:
Tierney, E
Nwokoro, NA
Porter, FD
Freund, LS
Ghuman, JK
Kelley, RI
Citation: E. Tierney et al., Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome, AM J MED G, 98(2), 2001, pp. 191-200
Authors:
Martinez-Frias, ML
Mazario, MJG
Caldas, CF
Gallego, MPC
Bermejo, E
Rodriguez-Pinilla, E
Citation: Ml. Martinez-frias et al., High maternal fever during gestation and severe congenital limb disruptions, AM J MED G, 98(2), 2001, pp. 201-203
Authors:
Wald, NJ
Hackshaw, AK
Citation: Nj. Wald et Ak. Hackshaw, Folic acid and miscarriage: An unjustified link, AM J MED G, 98(2), 2001, pp. 204-204
Authors:
Carey, JC
Citation: Jc. Carey, Much ado about something: The place of the American Journal of Medical Genetics in the field, AM J MED G, 98(1), 2001, pp. 1-2
Authors:
Peterson, SK
Rieger, PT
Marani, SK
deMoor, C
Gritz, ER
Citation: Sk. Peterson et al., Oncology nurses' knowledge, practice, and educational needs regarding cancer genetics, AM J MED G, 98(1), 2001, pp. 3-12
Authors:
Wright, L
Citation: L. Wright, Documenting nursing expertise in genetics: Where are we going?, AM J MED G, 98(1), 2001, pp. 13-14
Authors:
Lodder, L
Frets, PG
Trijsburg, RW
Meijers-Heijboer, EJ
Klijn, JGM
Duivenvoorden, HJ
Tibben, A
Wagner, A
van der Meer, CA
van den Ouweland, AMW
Niermeijer, MF
Citation: L. Lodder et al., Psychological impact of receiving a BRCA1/BRCA2 test result, AM J MED G, 98(1), 2001, pp. 15-24
Authors:
Iitsuka, Y
Bock, A
Nguyen, DD
Samango-Sprouse, CA
Simpson, JL
Bischoff, FZ
Citation: Y. Iitsuka et al., Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients, AM J MED G, 98(1), 2001, pp. 25-31
Authors:
Niemann, S
Becker-Follmann, J
Nurnberg, G
Ruschendorf, F
Sieweke, N
Hugens-Penzel, M
Traupe, H
Wienker, TF
Reis, A
Muller, U
Citation: S. Niemann et al., Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma, AM J MED G, 98(1), 2001, pp. 32-36
Authors:
McConkie-Rosell, A
Spiridigliozzi, GA
Sullivan, JA
Dawson, DV
Lachiewicz, AM
Citation: A. Mcconkie-rosell et al., Longitudinal study of the carrier testing process for fragile X syndrome: Perceptions and coping, AM J MED G, 98(1), 2001, pp. 37-45
Authors:
Fanos, JH
Davis, J
Puck, JM
Citation: Jh. Fanos et al., Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency, AM J MED G, 98(1), 2001, pp. 46-56