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Table of contents of journal: *American journal of medical genetics

Results: 1-25/6545

Authors: Martinez-Frias, ML Bermejo, E Rodriguez-Pinilla, E Frias, JL
Citation: Ml. Martinez-frias et al., Exstrophy of the cloaca and exstrophy of the bladder: Two different expressions of a primary developmental field defect, AM J MED G, 99(4), 2001, pp. 261-269

Authors: Carey, JC
Citation: Jc. Carey, Exstrophy of the cloaca and the OEIS complex: One and the same, AM J MED G, 99(4), 2001, pp. 270-270

Authors: Keppler-Noreuil, KM
Citation: Km. Keppler-noreuil, OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): A review of 14 cases, AM J MED G, 99(4), 2001, pp. 271-279

Authors: Schulze, BRB Tariverdian, G Komposch, G Stellzig, A
Citation: Brb. Schulze et al., Misclassification risk of patients with bilateral cleft lip and palate andmanifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?, AM J MED G, 99(4), 2001, pp. 280-285

Authors: Nakagawa, M Okuno, M Okamoto, N Fujino, H Kato, H
Citation: M. Nakagawa et al., Bernard-Soulier syndrome associated with 22q11.2 microdeletion, AM J MED G, 99(4), 2001, pp. 286-288

Authors: Castriota-Scanderbeg, A Dallapiccola, B Mingarelli, R Kozlowski, K
Citation: A. Castriota-scanderbeg et al., Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia, AM J MED G, 99(4), 2001, pp. 289-293

Authors: Toudjarska, I Kilpatrick, MW Lembessis, P Carra, S Harton, GL Sisson, ME Black, SH Stern, HJ Gelman-Kohan, Z Shohat, M Tsipouras, P
Citation: I. Toudjarska et al., Novel approach to the molecular diagnosis of Marfan syndrome: Application to sporadic cases and in prenatal diagnosis, AM J MED G, 99(4), 2001, pp. 294-302

Authors: de Paula, F Vainzof, M Bernardino, ALF McNally, E Kunkel, LM Zatz, M
Citation: F. De Paula et al., Mutations in the caveolin-3 gene: When are they pathogenic?, AM J MED G, 99(4), 2001, pp. 303-307

Authors: Finelli, P Giardino, D Russo, S Gottardi, G Cogliati, F Grugni, G Natacci, F Larizza, L
Citation: P. Finelli et al., Refilled FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome, AM J MED G, 99(4), 2001, pp. 308-313

Authors: de Vries, BBA Lees, M Knight, SJL Regan, R Corney, D Flint, J Barnicoat, A Winter, RM
Citation: Bba. De Vries et al., Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13), AM J MED G, 99(4), 2001, pp. 314-319

Authors: Rajcan-Separovic, E Robinson, WP Stephenson, M Pantzar, T Arbour, L McFadden, D Guscott, J
Citation: E. Rajcan-separovic et al., Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13), AM J MED G, 99(4), 2001, pp. 320-324

Authors: Halle, D Elstein, D Geudalia, D Sasson, A Shinar, E Schlesinger, M Zimran, A
Citation: D. Halle et al., High prevalence of complement C7 deficiency among healthy blood donors of Moroccan Jewish ancestry, AM J MED G, 99(4), 2001, pp. 325-327

Authors: Matsui, Y Yasui, N Ozono, K Yamagata, M Kawabata, H Yoshikawa, H
Citation: Y. Matsui et al., Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family, AM J MED G, 99(4), 2001, pp. 328-330

Authors: Vassal, H Medeira, A Cordeiro, I Santos, HG Castedo, S Saraiva, C da Silva, PM Monteiro, C
Citation: H. Vassal et al., Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Leri-Weill dyschondrosteosis, developmental delay, and ichthyosis, AM J MED G, 99(4), 2001, pp. 331-334

Authors: Martinez, MJ Binkert, F Schinzel, A Kotzot, D
Citation: Mj. Martinez et al., No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome, AM J MED G, 99(4), 2001, pp. 335-337

Authors: Rauch, A Schellmoser, S Kraus, C Dorr, HG Trautmann, U Altherr, MR Pfeiffer, RA Reis, A
Citation: A. Rauch et al., First known microdeletion within the Wolf-Hirschhorn-syndrome critical region refines genotype-phenotype correlation, AM J MED G, 99(4), 2001, pp. 338-342

Authors: Babu, A Lubs, HA Macera, M Patil, S Wyandt, H
Citation: A. Babu et al., In memoriam. Dr. Ram Verma, cytogeneticist 1946-2000, AM J MED G, 99(3), 2001, pp. 179-180

Authors: Rajagopalan, B
Citation: B. Rajagopalan, Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa, AM J MED G, 99(3), 2001, pp. 181-184

Authors: Haddad, R Uwaydat, S Dakroub, R Traboulsi, EI
Citation: R. Haddad et al., Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance, AM J MED G, 99(3), 2001, pp. 185-189

Authors: Weymann, S Yonekawa, Y Khan, N Martin, E Heppner, FL Schinzel, A Kotzot, D
Citation: S. Weymann et al., Severe arterial occlusive disorder and brachysyndactyly in a boy: A further case of Grange syndrome?, AM J MED G, 99(3), 2001, pp. 190-195

Authors: Uehara, S Hanew, K Harada, N Yamamori, S Nata, M Niikawa, N Okamura, K
Citation: S. Uehara et al., Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature, AM J MED G, 99(3), 2001, pp. 196-199

Authors: Pellegrino, JE Engel, JM Chavez, D Day-Salvatore, D
Citation: Je. Pellegrino et al., Oculo-palatal-cerebral syndrome: A second case, AM J MED G, 99(3), 2001, pp. 200-203

Authors: Parvari, R Shnaider, A Basok, A Katchko, L Borochovich, Z Kanis, A Landau, D
Citation: R. Parvari et al., Clinical and genetic characterization of an autosomal dominant nephropathy, AM J MED G, 99(3), 2001, pp. 204-209

Authors: Baty, BJ Olson, SB Magenis, RE Carey, JC
Citation: Bj. Baty et al., Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation andnormal intellectual development, AM J MED G, 99(3), 2001, pp. 210-216

Authors: Gu, YH Kodama, H Murata, Y Mochizuki, D Yanagawa, Y Ushijima, H Shiba, T Lee, CC
Citation: Yh. Gu et al., ATP7A gene mutations in 16 patients with Menkes disease and a patient withoccipital horn syndrome, AM J MED G, 99(3), 2001, pp. 217-222
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