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Results: 26-50/6545
Authors:
Anderlid, BM
Sahlen, S
Schoumans, J
Holmberg, E
Ahsgren, I
Mortier, G
Speleman, F
Blennow, E
Citation: Bm. Anderlid et al., Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy, AM J MED G, 99(3), 2001, pp. 223-233
Authors:
Sakamoto, M
Kanegane, H
Fujii, H
Tsukada, S
Miyawaki, T
Shinomiya, N
Citation: M. Sakamoto et al., Maternal germinal mosaicism of X-linked agammaglobulinemia, AM J MED G, 99(3), 2001, pp. 234-237
Authors:
Baumgartner, D
Gassner, I
Sperl, W
Salzer-Kuntschik, M
Judmaier, W
Steinmann, B
Citation: D. Baumgartner et al., Calvarial "doughnut lesions": Clinical spectrum of the syndrome, report ona case, and review of the literature, AM J MED G, 99(3), 2001, pp. 238-243
Authors:
Zenteno, JC
Jimenez, AL
Canto, P
Valdez, H
Mendez, JP
Kofman-Alfaro, S
Citation: Jc. Zenteno et al., Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue, AM J MED G, 99(3), 2001, pp. 244-247
Authors:
LaDine, BJ
Simmons, JA
Shrimpton, AE
Hoo, JJ
Citation: Bj. Ladine et al., Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: Exclusion of the aarskog (FGD1) gene as a candidate gene, AM J MED G, 99(3), 2001, pp. 248-251
Authors:
Huffman, C
McCandless, D
Jasty, R
Matloub, J
Robinson, HB
Weaver, DD
Cohen, MM
Citation: C. Huffman et al., Weaver syndrome with neuroblastoma and cardiovascular anomalies, AM J MED G, 99(3), 2001, pp. 252-255
Authors:
Hennekam, RCM
Waterham, HR
Wanders, RJA
Aronson, DC
Citation: Rcm. Hennekam et al., No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis, AM J MED G, 99(3), 2001, pp. 256-257
Authors:
Storto, P
Zackowski, J
Leichtman, L
Montgomery, T
Newlin, A
Citation: P. Storto et al., Trisomy 1q42qter "syndrome": Additional case report, AM J MED G, 99(3), 2001, pp. 258-259
Authors:
De Kremer, RD
Paschini-Capra, A
Bacman, S
Argarana, C
Civallero, G
Kelley, RI
Guelbert, N
Latini, A
de Halac, IN
Giner-Ayala, A
Johnston, J
Proujansky, R
Gonzalez, I
Depetris-Boldini, C
Oller-Ramirez, A
Angaroni, C
Theaux, RA
Hliba, E
Juaneda, E
Citation: Rd. De Kremer et al., Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation), AM J MED G, 99(2), 2001, pp. 83-93
Authors:
Keeling, SL
Lee-Jones, L
Thompson, P
Citation: Sl. Keeling et al., Brief clinical report - Interstitial deletion 4q32-34 with ulnar deficiency: 4q33 may be the critical region in 4q terminal deletion syndrome, AM J MED G, 99(2), 2001, pp. 94-98
Authors:
Press, NA
Yasui, Y
Reynolds, S
Durfy, SJ
Burke, W
Citation: Na. Press et al., Women's interest in genetic testing for breast cancer susceptibility may be based on unrealistic expectations, AM J MED G, 99(2), 2001, pp. 99-110
Authors:
Akiyama, M
Kawame, H
Ohashi, H
Tohma, T
Ohta, H
Shishikura, A
Miyata, I
Usui, N
Eto, Y
Citation: M. Akiyama et al., Brief clinical report - Functional disomy for Xq26.3-qter in a boy with anunbalanced t(X;21)(q26.3;p11.2) translocation, AM J MED G, 99(2), 2001, pp. 111-114
Authors:
Martin, DM
Sheldon, S
Gorski, JL
Citation: Dm. Martin et al., CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11), AM J MED G, 99(2), 2001, pp. 115-119
Authors:
Graham, JM
Citation: Jm. Graham, Editorial comment - A recognizable syndrome within CHARGE association: Hall-Hittner syndrome, AM J MED G, 99(2), 2001, pp. 120-123
Authors:
Amiel, J
Attie-Bitach, T
Marianowski, R
Cormier-Daire, V
Abadie, V
Bonnet, D
Gonzales, M
Chemouny, S
Brunelle, F
Munnich, A
Manach, Y
Lyonnet, S
Citation: J. Amiel et al., Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGEsyndrome, AM J MED G, 99(2), 2001, pp. 124-127
Authors:
Galasso, C
Scire, G
Fabbri, F
Spadoni, GL
Killoran, CE
Biesecker, LG
Boscherini, B
Citation: C. Galasso et al., Long-term treatment with growth hormone improves final height in a patientwith Pallister-Hall syndrome, AM J MED G, 99(2), 2001, pp. 128-131
Authors:
Faivre, L
Nivelon-Chevallier, A
Kottler, ML
Robinet, C
Van Kien, PK
Lorcerie, B
Munnich, A
Maroteaux, P
Cormier-Daire, V
LeMerrer, M
Citation: L. Faivre et al., Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome, AM J MED G, 99(2), 2001, pp. 132-136
Authors:
Ford, B
Rupps, R
Lirenman, D
Van Allen, MI
Farquharson, D
Lyons, C
Friedman, JM
Citation: B. Ford et al., Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family, AM J MED G, 99(2), 2001, pp. 137-141
Authors:
Martinez-Frias, ML
Citation: Ml. Martinez-frias, Heterotaxia as an outcome of maternal diabetes: An epidemiological study, AM J MED G, 99(2), 2001, pp. 142-146
Authors:
Park, JK
Koprivica, V
Andrews, DQ
Madike, V
Tayebi, N
Stone, DL
Sidransky, E
Citation: Jk. Park et al., Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease, AM J MED G, 99(2), 2001, pp. 147-151
Authors:
Dunn, TM
Grunfeld, L
Kardon, NB
Citation: Tm. Dunn et al., Brief clinical report - Trisomy 1 in a clinically recognized IVF pregnancy, AM J MED G, 99(2), 2001, pp. 152-153
Authors:
Hartling, UB
Hansen, BF
Skovgaard, LT
Kjaer, I
Citation: Ub. Hartling et al., Bi-iliac distance and iliac bone position compared to the vertebral columnin normal fetal development, AM J MED G, 99(2), 2001, pp. 154-158
Authors:
Sjarif, DR
Revesz, T
de Koning, TJ
Duran, M
Beemer, FA
Poll-The, BT
Citation: Dr. Sjarif et al., Isolated glycerol kinase deficiency and Fanconi anemia, AM J MED G, 99(2), 2001, pp. 159-160
Authors:
Lam, CW
Poon, PMK
Tong, SF
Ko, CH
Citation: Cw. Lam et al., Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis, AM J MED G, 99(2), 2001, pp. 161-163
Authors:
Toscano, E
Andria, G
Citation: E. Toscano et G. Andria, Congenital insensitivity to pain with anhidrosis: An NGF/TrkA-related disorder, AM J MED G, 99(2), 2001, pp. 164-164