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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
Severe arterial occlusive disorder and brachysyndactyly in a boy: A further case of Grange syndrome?
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