Human Molecular Genetics

ARTICLES:

N Ben-Arie, AE McCall, S Berkman, G Eichele, HJ Bellen, and HY Zoghbi

Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis
Hum. Mol. Genet. 1996 5: 1207-1216; doi:10.1093/hmg/5.9.1207 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AG Engel, K Ohno, M Milone, HL Wang, S Nakano, C Bouzat, JN Pruitt, 2nd, DO Hutchinson, JM Brengman, N Bren, JP Sieb, and SM Sine

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
Hum. Mol. Genet. 1996 5: 1217-1227; doi:10.1093/hmg/5.9.1217 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

YJ de Kok, ER Vossenaar, CW Cremers, N Dahl, J Laporte, LJ Hu, D Lacombe, N Fischel-Ghodsian, RA Friedman, LS Parnes, P Thorpe, M Bitner-Glindzicz, HJ Pander, H Heilbronner, J Graveline, JT den Dunnen, HG Brunner, HH Ropers, and FP Cremers

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4
Hum. Mol. Genet. 1996 5: 1229-1235; doi:10.1093/hmg/5.9.1229 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Kangas, T Paunio, N Kalkkinen, A Jalanko, and L Peltonen

In vitro expression analysis shows that the secretory form of gelsolin is the sole source of amyloid in gelsolin-related amyloidosis
Hum. Mol. Genet. 1996 5: 1237-1243; doi:10.1093/hmg/5.9.1237 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

G Moslein, DJ Tester, NM Lindor, R Honchel, JM Cunningham, AJ French, KC Halling, M Schwab, P Goretzki, and SN Thibodeau

Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer
Hum. Mol. Genet. 1996 5: 1245-1252; doi:10.1093/hmg/5.9.1245 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

F Tanaka, M Doyu, Y Ito, M Matsumoto, T Mitsuma, K Abe, M Aoki, Y Itoyama, KH Fischbeck, and G Sobue

Founder effect in spinal and bulbar muscular atrophy (SBMA)
Hum. Mol. Genet. 1996 5: 1253-1257; doi:10.1093/hmg/5.9.1253 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Yotsumoto, H Fujiwara, JH Horton, TA Mosby, X Wang, Y Cui, and MS Ko

Cloning and expression analyses of mouse dystroglycan gene: specific expression in maternal decidua at the peri-implantation stage
Hum. Mol. Genet. 1996 5: 1259-1267; doi:10.1093/hmg/5.9.1259 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Imbeaud, C Belville, L Messika-Zeitoun, R Rey, N di Clemente, N Josso, and JY Picard

A 27 base-pair deletion of the anti-mullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome
Hum. Mol. Genet. 1996 5: 1269-1277; doi:10.1093/hmg/5.9.1269 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SL Page, JC Shin, JY Han, KH Choo, and LG Shaffer

Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation
Hum. Mol. Genet. 1996 5: 1279-1288; doi:10.1093/hmg/5.9.1279 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CI Szabo, LA Wagner, LV Francisco, JC Roach, R Argonza, MC King, and EA Ostrander

Human, canine and murine BRCA1 genes: sequence comparison among species
Hum. Mol. Genet. 1996 5: 1289-1298; doi:10.1093/hmg/5.9.1289 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

DS Greenberg, Y Schatz, Z Levy, P Pizzo, D Yaffe, and U Nudel

Reduced levels of dystrophin associated proteins in the brains of mice deficient for Dp71
Hum. Mol. Genet. 1996 5: 1299-1303; doi:10.1093/hmg/5.9.1299 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

J Guimera, C Casas, C Pucharcos, A Solans, A Domenech, AM Planas, J Ashley, M Lovett, X Estivill, and MA Pritchard

A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region
Hum. Mol. Genet. 1996 5: 1305-1310; doi:10.1093/hmg/5.9.1305 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

B Koshy, T Matilla, EN Burright, DE Merry, KH Fischbeck, HT Orr, and HY Zoghbi

Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase
Hum. Mol. Genet. 1996 5: 1311-1318; doi:10.1093/hmg/5.9.1311 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

MW Russell, M Dick, 2nd, FS Collins, and LC Brody

KVLQT1 mutations in three families with familial or sporadic long QT syndrome
Hum. Mol. Genet. 1996 5: 1319-1324; doi:10.1093/hmg/5.9.1319 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

JC Webb, DD Patel, CC Shoulders, BL Knight, and AK Soutar

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism
Hum. Mol. Genet. 1996 5: 1325-1331; doi:10.1093/hmg/5.9.1325 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

SK Sidhar, J Clark, S Gill, R Hamoudi, AJ Crew, R Gwilliam, M Ross, WM Linehan, S Birdsall, J Shipley, and CS Cooper

The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene
Hum. Mol. Genet. 1996 5: 1333-1338; doi:10.1093/hmg/5.9.1333 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

AJ Richards, JR Yates, R Williams, SJ Payne, FM Pope, JD Scott, and MP Snead

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
Hum. Mol. Genet. 1996 5: 1339-1343; doi:10.1093/hmg/5.9.1339 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

RS Hansen, TK Canfield, AD Fjeld, and SM Gartler

Role of late replication timing in the silencing of X-linked genes
Hum. Mol. Genet. 1996 5: 1345-1353; doi:10.1093/hmg/5.9.1345 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S Sheardown, D Norris, A Fisher, and N Brockdorff

The mouse Smcx gene exhibits developmental and tissue specific variation in degree of escape from X inactivation
Hum. Mol. Genet. 1996 5: 1355-1360; doi:10.1093/hmg/5.9.1355 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

L Carrel, PA Hunt, and HF Willard

Tissue and lineage-specific variation in inactive X chromosome expression of the murine Smcx gene
Hum. Mol. Genet. 1996 5: 1361-1366; doi:10.1093/hmg/5.9.1361 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H Kremer, LP Kuyt, B van den Helm, M van Reen, JA Leunissen, BC Hamel, C Jansen, EC Mariman, RR Frants, and GW Padberg

Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family
Hum. Mol. Genet. 1996 5: 1367-1371; doi:10.1093/hmg/5.9.1367 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V Ionasescu, C Searby, VC Sheffield, T Roklina, D Nishimura, and R Ionasescu

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
Hum. Mol. Genet. 1996 5: 1373-1375; doi:10.1093/hmg/5.9.1373 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K Isozumi, R DeLong, J Kaplan, HX Deng, Z Iqbal, WY Hung, KC Wilhelmsen, A Hentati, MA Pericak-Vance, and T Siddique

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31
Hum. Mol. Genet. 1996 5: 1377-1382; doi:10.1093/hmg/5.9.1377 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I del Castillo, M Villamar, M Sarduy, L Romero, C Herraiz, FJ Hernandez, M Rodriguez, I Borras, A Montero, J Bellon, MC Tapia, and F Moreno

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22
Hum. Mol. Genet. 1996 5: 1383-1387; doi:10.1093/hmg/5.9.1383 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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