HUM-MOLGEN archive: LITE: Human Molecular Genetics

============================================================== Human Molecular Genetics - ISSN 1964-6906 Volume 4, No 10 October 1995 ============================================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ============================================================== CONTENTS ============================================================== ARTICLES An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3 G B Ferrero, B Franco, E J Roth, B A Firulli, G Borsani, J Delmas-Mata, J Weissenbach, G Halley, D Schlessinger, A C Chinault, H Y Zoghbi, D L Nelson and A Ballabio P. 1821 Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers J M Gastier, J C Pulido, S Sunden, T Brody, K H Buetow, J C Murray, J L Weber, T J Hudson, V C Sheffield and G M Duyk P. 1829 A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps V C Sheffield, J L Weber, K H Buetow, J C Murray, D A Even, K Wiles, J M Gastier, J C Pulido, C Yandava, S L Sunden, G Mattes, T Businga, A McClain, J Beck, T Scherpier, J Gilliam, J Zhong and G M Duyk P. 1837 Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds G J Walker, C J Hussussian, J F Flores, J M Glendening, F G Haluska, N C Dracopoli, N K Hayward and J W Fountain P. 1845 REPORTS Identification of novel mutations in three families with Emery- Dreifuss muscular dystrophy S M Klauck, P Wilgenbus, J R W Yates, C R Muller and A Poustka P. 1853 Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease S Bione, K Small, V M A Aksmanovic, M D'Urso, A Ciccodicola, L Merlini, L Morandi, W Kress, J R W Yates, S T Warren and D Toniolo P. 1859 Molecular defects in Krabbe disease N Tatsumi, K Inui, N Sakai, H Fukushima, J Nishimoto, I Yanagihara, T Nishigaki, H Tsukamoto, L Fu, M Taniike and S Okada P. 1865 New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105 R Raha-Chowdhury, D J Bowen, C Stone, J J Pointon, J D Terwilliger, J D Shearman, K J H Robson, A Bomford and M Worwood P. 1869 Novel mutations in keratin 16 gene underly focal non- epidermolytic palmoplantar keratoderma (NEPPK) in two families M K Shamsher, H A Navsaria, H P Stevens, R C Ratnavel, P E Purkis, D P Kelsell, W H I McLean, L J Cook, W A D Griffiths, S Gschmeissner, N Spurr and I M Leigh P. 1875 Intragenic mutations of CDKN2B and CDKN2A in primary human esophageal cancers H Suzuki, X Zhou, J Yin, J Lei, H Yan Jiang, Y Suzuki, T Chan, G J Hannon, W J Mergner, J M Abraham and S J Meltzer P. 1883 Microsatellite instability at a single locus (D11S988) on chromosome 11p15.5 as a late event in mammary tumorigenesis P Karnik, S Plummer, G Casey, J Myles, R Tubbs, J Crowe and B R G Williams P. 1889 Mutation analysis of the ROM1 gene in retinitis pigmentosa R A Bascom, L Liu, J R Heckenlively, E M Stone and R R McInnes P. 1895 Quantitative DNA fiber mapping H-U G Weier, M Wang, J C Mullikin, Y Zhu, J-F Cheng, K M Greulich, A Bensimon and J W Gray P. 1903 Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population Y P Goldberg, C T McMurray, J Zeisler, E Almqvist, D Sillence, F Richards, A Marquis Gacy, J Buchanan, H Telenius and M R Hayden P. 1911 A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat C A Boucher, S K King, N Carey, R Krahe, C L Winchester, S Rahman, T Creavin, P Meghji, M E S Bailey, F L Chartier, S D Brown, M J Siciliano and K J Johnson P. 1919 Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals E Hahnen,R Forkert, C Marke, S Rudnik-Schoeneborn, J Schoenling, K Zerres and B Wirth P. 1927 A new human gene from the Down syndrome critical region encodes a proline -rich protein highly expressed in fetal brain and heart J-J Fuentes, M A Pritchard, A M Planas, A Bosch, I Ferrer and X Estivill P. 1935 Conservation of a maternal-specific methylation signal at the human IGF2R locus O W Smrzka, I Fae, R Stoeger, R Kurzbauer, G F Fischer, T Henn, A Weith and D P Barlow P. 1945 CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset A G Morris, E Gaitonde, P J McKenna, J D Mollon and D M Hunt P. 1957 LINKAGE REPORTS Localization of Refsum disease with increased pipecolic acideamia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family N Nadal, M-O Rolland, C Tranchant, L Reutenauer, G Gyapay, J-M Warter, J-L Mandel and M Koenig P. 1963 A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3 M M Lesperance, J W Hall, F H Bess, K Fukushima, P K Jain, B Ploplis, T B San Augustin, H Skarka, R J H Smith, M Wills and E R Wilcox P. 1967 A gene for ulnar-mammary syndrome maps to 12q23-q24.1 M Bamshad, P A Krakowiak, W S Watkins, S Root, J C Carey and L B Jorde P. 1973 MUTATION REPORTS Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors R Palmirotta, M C Curia, D L Esposito, R Valanzano, L Messerini, F Ficari, M L Brandi, F Tonelli, R Mariani-Costantini, P Battista and A Cama P. 1979 Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function K A McAllister, M A Baldwin, A K Thukkani, C J Gallione, J N Berg, M E Porteous, A E Guttmacher and D A Marchuk P. 1983 Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B Y Kitamura, N Scavarda, S A Wells, Jr, C E Jackson and P J Goodfellow P. 1987 Detection of BRCA1 mutations by the protein truncation test S J Plummer, H Anton-Culver, L Webster, B Noble, S Liao, A Kennedy, J Belinson and G Casey P. 1989 Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum I Satokata, M Uchiyama and K Tanaka P. 1993 Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype S-P Kwan, T L Hagemann, R M Blaese, A Knutsen and F S Rosen P. 1995 Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5 M Matsuki, K Hashimoto, K Yoshikawa, H Yasuno and K Yamanishi P. 1999 A deletion hot-spot in exon 7 of the Gsalpha gene (GNAS1) in patients with Albright hereditary osteodystrophy S Yu, D Yu, B E Hainline, J L Brener, K A Wilson, L C Wilson, M E Oude-Luttikhuis, R C Trembath and L S Weinstein P. 2001 SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function V Nigro, P Bruni, A Ciccodicola, L Politano, G Nigro, G Piluso, V Cappa, A E Covone, G Romeo and M D'Urso P. 2003 AUTHOR INDEX P. 2005 CORRIGENDUM Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia W-L Hwu, S-C Chuang, L-P Tsai, M-H Chang and T-R Wang P. 2006 (Human Molecular genetics 4, 1095-1096) ============================================================== 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 October 1995 issue, which is shortly to be printed. Copies are scheduled for despatch to subscribers on the 27 September 1995. If you would like further details about Human Molecular Genetics, including instructions to authors or details of subscription rates, please contact:- Richard Gedye Oxford University Press Walton Street Oxford OX2 6DP United Kingdom Tel: +44 1865 267785 Fax: +44 1865 267835 E-Mail: gedyer@oup.co.uk 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.