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virtual library in human genetics and molecular biology

ARTICLES

N Ben-Arie, A E McCall, S Berkman, G Eichele, H J Bellen and H Y Zoghbi

Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis

P. 1207


A G Engel, K Ohno, M Milone, H-L Wang, S Nakano, C Bouzat, J N Pruitt II, D O Hutchinson, J M Brengman, N Bren, J P Sieb and S M Sine

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome

P. 1217


Y J M de Kok, E R Vossenaar, C W R J Cremers, N Dahl, J Laporte, L J Hu, D Lacombe, N Fischel-Ghodsian, R A Friedman, L S Parnes, P Thorpe, M Bitner-Glindzicz, H-J Pander, H Heilbronner, J Graveline, J T den Dunnen, H G Brunner, H-H Ropers and F P M 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

P. 1229


REPORTS

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

P. 1237


G Moslein, D J Tester, N M Lindor, R Honchel, J M Cunningham, A J French, K C Halling, M Schwab, P Goretzki and S N Thibodeau

Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer

P. 1245


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

Founder effect in spinal and bulbar muscular atrophy (SBMA)

P. 1253


S Yotsumoto, H Fujiwara, J H Horton, T A Mosby, X Wang, Y Cui and M S H Ko

Cloning and expression analyses of mouse dystroglycan gene: specific expression in maternal decidua at the peri-implantation stage

P. 1259


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

A 27 bp deletion of the anti-Mullerian type I receptor gene is the most common cause of the persistent Mullerian duct syndrome

P. 1269


S L Page, J-C Shin, J-Y Han, K H A Choo and L G Shaffer

Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation

P. 1279


C I Szabo, L A Wagner, L V Francisco, J C Roach, R Argonza, M-C King and E A Ostrander

Human, canine and murine BRCA1 genes: sequence comparison among species

P. 1289


D S 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

P. 1299


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

A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region

P. 1305


B Koshy, T Matilla, E N Burright, D E Merry, K H Fischbeck, H T Orr and H Y Zoghbi

Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase

P. 1311


M W Russell, M Dick II, F S Collins and L C Brody

KVLQT1 mutations in three families with familial or sporadic long QT syndrome

P. 1319


J C Webb, D D Patel, C C Shoulders, B L Knight and A K 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

P. 1325

S K Sidhar, J Clark, S Gill, R Hamoudi, A J Crew, R Gwilliam, M Ross, W M Linehan, S Birdsall, J Shipley and C S 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

P. 1333


A J Richards, J R W Yates, R Williams, S J Payne, F M Pope, J D Scott and M P Snead

A family with Stickler syndrome type 2 has a mutation in the COL 11A1 gene resulting in the substitution of glycine 97 by valine in a1(XI) collagen

P. 1339


R Scott Hansen, T K Canfield, A D Fjeld and S M Gartler

Role of late replication timing in the silencing of X-linked genes

P. 1345


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

P. 1355


L Carrel, P A Hunt and H F Willard

Tissue and lineage-specific variation in inactive X chromosome expression of the murine Smcx gene

P. 1361


LINKAGE REPORTS

H Kremer, L P Kuyt, B van den Helm, M van Reen, J A M Leunissen, B C J Hamel, C Jansen, E C M Mariman, R R Frants and G W Padberg

Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family

P. 1367


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

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)

P. 1373


K Isozumi, R DeLong, J Kaplan, H-X Deng, Z Iqbal, W-Y Hung, K C Wilhelmsen, A Hentati, M A Pericak-Vance and T Siddique

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31

P. 1377


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

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22

P. 1383

Human Molecular Genetics is a monthly journal of original peer-reviewed research, published by Oxford University Press.
In addition to the regular monthly issues, a special review issue, reviewing important developments in the field, is published each year.

The papers listed above will appear in the September 1996 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on 20 August 1996.

Copyright in the table of contents listed above is held by Oxford University Press, but you are welcome to circulate them further, provided that Oxford University Press is credited as publisher and copyright holder.

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