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Results: 76-100/6545
Authors:
Jain, R
Jones, C
Citation: R. Jain et C. Jones, Hydrops fetalis in an interstitial deletion of chromosome 10, AM J MED G, 98(4), 2001, pp. 320-323
Authors:
Pankau, R
Siebert, R
Kautza, M
Schneppenheim, R
Gosch, A
Wessel, A
Partsch, CJ
Citation: R. Pankau et al., Familial Williams-Beuren syndrome showing varying clinical expression, AM J MED G, 98(4), 2001, pp. 324-329
Authors:
Franceschini, P
Licata, D
Guala, A
Di Cara, G
Franceschini, D
Citation: P. Franceschini et al., Peculiar facial appearance and generalized brachydactyly in a patient withcongenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome), AM J MED G, 98(4), 2001, pp. 330-335
Authors:
Schwartz, MD
Rothenberg, K
Joseph, L
Benkendorf, J
Lerman, C
Citation: Md. Schwartz et al., Consent to the use of stored DNA for genetics research: A survey of attitudes in the Jewish population, AM J MED G, 98(4), 2001, pp. 336-342
Authors:
Badenas, C
Castellvi-Bel, S
Volpini, V
Jimenez, D
Sanchez, A
Estivill, X
Mila, M
Citation: C. Badenas et al., Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21, AM J MED G, 98(4), 2001, pp. 343-347
Authors:
Yoshida, H
Horie, M
Otani, H
Kawashima, T
Onishi, Y
Sasayama, S
Citation: H. Yoshida et al., Bradycardia-induced long QT syndrome caused by a de novo missense mutationin the S2-S3 inner loop of HERG, AM J MED G, 98(4), 2001, pp. 348-352
Authors:
Ogata, T
Matsuo, M
Muroya, K
Koyama, Y
Fukutani, K
Citation: T. Ogata et al., 47,XXX male: A clinical and molecular study, AM J MED G, 98(4), 2001, pp. 353-356
Authors:
Martinelli, M
Scapoli, L
Pezzetti, F
Carinci, F
Carinci, P
Stabellini, G
Bisceglia, L
Gombos, F
Tognon, M
Citation: M. Martinelli et al., C677T variant form at the MTHFR gene and CL/P: A risk factor for mothers?, AM J MED G, 98(4), 2001, pp. 357-360
Authors:
Johnson, WG
Spychala, JR
Stenroos, ES
Scholl, TO
Schroeder, CM
Citation: Wg. Johnson et al., Smoking behavior and the C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene, AM J MED G, 98(4), 2001, pp. 361-362
Authors:
Happle, R
Citation: R. Happle, Large plexiform neurofibromas may be explained as a type 2 segmental manifestation of neurofibromatosis 1, AM J MED G, 98(4), 2001, pp. 363-364
Authors:
Pankau, R
Gosch, A
Partsch, CJ
Alfes, G
Wessel, A
Citation: R. Pankau et al., Metacarpophalangeal pattern profile (MCPP) analysis in Williams-Beuren syndrome (WBS), AM J MED G, 98(4), 2001, pp. 365-366
Authors:
Muraki, K
Sakura, N
Ueda, H
Kihara, H
Goto, Y
Citation: K. Muraki et al., Clinical implications of duplicated mtDNA in Pearson syndrome, AM J MED G, 98(3), 2001, pp. 205-209
Authors:
Kantaputra, PN
Citation: Pn. Kantaputra, Laurin-Sandrow syndrome with additional associated manifestations, AM J MED G, 98(3), 2001, pp. 210-215
Authors:
Plaja, A
Vendrell, T
Smeets, D
Sarret, E
Gili, T
Catala, V
Mediano, C
Scheres, JMJC
Citation: A. Plaja et al., Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease, AM J MED G, 98(3), 2001, pp. 216-223
Authors:
Limprasert, P
Saechan, V
Ruangdaraganon, N
Sura, T
Vasiknanote, P
Jaruratanasirikul, S
Brown, WT
Citation: P. Limprasert et al., Haplotype analysis at the FRAXA locus in Thai subjects, AM J MED G, 98(3), 2001, pp. 224-229
Authors:
Bertola, DR
Kim, CA
Pereira, AC
Mota, GFA
Krieger, JE
Vieira, IC
Valente, M
Loreto, MR
Magalhaes, RP
Gonzalez, CH
Citation: Dr. Bertola et al., Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?, AM J MED G, 98(3), 2001, pp. 230-234
Authors:
Chinnery, PF
Andrews, RM
Turnbull, DM
Howell, N
Citation: Pf. Chinnery et al., Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?, AM J MED G, 98(3), 2001, pp. 235-243
Authors:
Megarbane, A
Waked, N
Chouery, E
Moglabey, YB
Saliba, N
Mornet, E
Serre, JL
Slim, R
Citation: A. Megarbane et al., Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers, AM J MED G, 98(3), 2001, pp. 244-249
Authors:
Kumada, S
Hayashi, M
Kenmochi, J
Kurosawa, S
Shimozawa, N
Kratz, LE
Kelley, RI
Taki, K
Okaniwa, M
Citation: S. Kumada et al., Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis, AM J MED G, 98(3), 2001, pp. 250-255
Authors:
Galjaard, RJH
van der Ham, LI
Posch, NAS
Dijkstra, PF
Oostra, BA
Hovius, SER
Timmenga, EJF
Sonneveld, GJ
Hoogeboom, AJM
Heutink, P
Citation: Rjh. Galjaard et al., Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone, AM J MED G, 98(3), 2001, pp. 256-262
Authors:
Kantaputra, PN
Eiumtrakul, P
Matin, T
Opastirakul, S
Visrutaratna, P
Mevate, U
Citation: Pn. Kantaputra et al., Cryptophthalmos, dental and oral abnormalities, and brachymesophalangy of second toes: New syndrome or Fraser syndrome?, AM J MED G, 98(3), 2001, pp. 263-268
Authors:
Morimoto, J
Kaneoka, H
Murata, T
Sato, YN
Ogahara, S
Hirose, S
Naito, S
Naritomi, K
Citation: J. Morimoto et al., Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?, AM J MED G, 98(3), 2001, pp. 269-272
Authors:
Aftimos, S
McGaughran, J
Citation: S. Aftimos et J. Mcgaughran, Toriello-Carey syndrome: Case report with additional findings, AM J MED G, 98(3), 2001, pp. 273-276
Authors:
Barak, F
Shiri-Svredlov, R
Sade, RBB
Kruglikova, A
Friedman, E
Ben-Dor, D
Goldberg, I
Citation: F. Barak et al., Adrenal tumors in BRCA1/BRCA2 mutation carriers, AM J MED G, 98(3), 2001, pp. 277-279
Authors:
Gregersen, PK
Kowalsky, E
Kohn, N
Marvin, EW
Citation: Pk. Gregersen et al., Early childhood music education and predisposition to absolute pitch: Teasing apart genes and environment, AM J MED G, 98(3), 2001, pp. 280-282