Human Molecular Genetics

ARTICLES:

Glovanni B. Ferrero, Brunella Franco, E.Jill Roth, Beth A. Firulli, Gluseppe Borsanl, Juan Delmas-Mata, Jean Weissenbach, George Halley, David Schlessinger, A.Craig Chinault, Huda Y.Zoghbi, David L.Nelson, and Andrea Ballabio

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3
Hum. Mol. Genet. 1995 4: 1821-1827; doi:10.1093/hmg/4.10.1821 [Abstract] [PDF] [Request Permissions]  

Julie M. Gastier, Jacqueline C. Pulido, Sara Sunden, Thomas Brody, Kenneth H. Buetow, Jeffrey C. Murray, James L. Weber, Thomas J. Hudson, Val C. Sheffield, and Geoffrey M. Duyk

Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers
Hum. Mol. Genet. 1995 4: 1829-1836; doi:10.1093/hmg/4.10.1829 [Abstract] [PDF] [Request Permissions]  

Val. C. Sheffield, James L. Weber, Kenneth H. Buetow, Jeffrey C. Murray, Dee Ann Even, Kerry Wiles, Julie M. Gastier, Jacqueline C. Pulido, Chandri Yandava, Sara L. Sunden, Gretel Mattes, Thomas Businga, Anne McClain, John Beck, Titia Scherpler, John Gilliam, John Zhong, and Geoffrey M. Duyk

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
Hum. Mol. Genet. 1995 4: 1837-1844; doi:10.1093/hmg/4.10.1837 [Abstract] [PDF] [Request Permissions]  

Graeme Walker, Christopher Hussussian, José F. Flores, Michael J. Glendening, Frank G. Haluska, Nicholas C. Dracopoli, Nicholas K. Hayward, and Jane W. Fountain

Mutations of the CDKN2/p16^INK4 gene in Australian melanoma kindreds
Hum. Mol. Genet. 1995 4: 1845-1852; doi:10.1093/hmg/4.10.1845 [Abstract] [PDF] [Request Permissions]  

REPORTS:

Sabine M. Klauck, Petra Wllgenbus, John R.W. Yates, Clemens R. Müller, and Annemarie Poustka

Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
Hum. Mol. Genet. 1995 4: 1853-1857; doi:10.1093/hmg/4.10.1853 [PDF] [Request Permissions]  

Silvia Blone, Kersten Small, Veronica M.A. Aksmanovic, Michele D'Urso, Alfredo Ciccodicola, Luciano Merlini, Lucia Morandi, Wolfram Kress, John R.W. Yates, Steve T. Warren, and Daniela Toniolo

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
Hum. Mol. Genet. 1995 4: 1859-1863; doi:10.1093/hmg/4.10.1859 [Abstract] [PDF] [Request Permissions]  

Naoko Tatsumi, Koji Inui, Norio Sakai, Hisao Fukushima, Alfredo Nishimoto, Itaru Yanagihara, Toshinori Nishigaki, Hiroko Tsukamoto, Ling Fu, Masako Tanlike, and Shintaro Okada

Molecular defects in Krabbe disease
Hum. Mol. Genet. 1995 4: 1865-1868; doi:10.1093/hmg/4.10.1865 [Abstract] [PDF] [Request Permissions]  

Ruma Raha-Chowdhury, Derrick J. Bowen, Caroline Stone, Jennifer J. Pointon, Joseph D. Terwilliger, Jeremy D. Shearman, Kathryn J.H. Robson, Adrian Bomford, and Mark Worwood

New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105
Hum. Mol. Genet. 1995 4: 1869-1874; doi:10.1093/hmg/4.10.1869 [Abstract] [PDF] [Request Permissions]  

M.K. Shamsher, H.A. Navsaria, H.P. Stevens, R.C. Ratnavel, P.E. Purkis, D.P. Keisell, W.H.I. McLean, L.J. Cook, W.A.D. Griffiths, S. Gschmeissner, N. Spurr, and I.M. Leigh

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
Hum. Mol. Genet. 1995 4: 1875-1881; doi:10.1093/hmg/4.10.1875 [Abstract] [PDF] [Request Permissions]  

Hiroyuki Suzuki, Xiaoling Zhou, Jing Yin, Jungi Lei, HaL Yan Jiang, Yukiko Suzuki, Tim Chan, Gregory J. Hannon, Wolfgang J. Mergner, John M. Abraham, and Stephen J. Melzer

Intragenic mutations of CDKN2B and CDKN2A in primary human esophageal cancers
Hum. Mol. Genet. 1995 4: 1883-1887; doi:10.1093/hmg/4.10.1883 [Abstract] [PDF] [Request Permissions]  

Pratima Karnik, Sarah Plummer, Graham Casey, Jonathan Myles, Raymond Tubbs, Joseph Crowe, and Bryan R.G. Williams

Microsatellite instability at a single locus (D11S988) on chromosome 11p15.5 as a late event in mammary tumorigenesis
Hum. Mol. Genet. 1995 4: 1889-1894; doi:10.1093/hmg/4.10.1889 [Abstract] [PDF] [Request Permissions]  

Roger A. Bascom, Lin Liu, John R. Heckenlively, Edwin M. Stone, and Roderick R. Mcinnes

Mutation analysis of the ROM1 gene in retinitis pigmentosa
Hum. Mol. Genet. 1995 4: 1895-1902; doi:10.1093/hmg/4.10.1895 [Abstract] [PDF] [Request Permissions]  

H-U.G. Weler, Lin Wang, J.C. Mullikin, Y. Zhu, J-F. Cheng, K.M. Greulich, A. Bensimon, and J.W. Gray

Quantitative DNA fiber mapping
Hum. Mol. Genet. 1995 4: 1903-1910; doi:10.1093/hmg/4.10.1903 [Abstract] [PDF] [Request Permissions]  

Y.Paul Goldberg, Cynthia T. McMurray, Jutta Zeisier, Elisabeth Almqvist, David Sillence, Flona Richards, A.Marquis Gacy, Janet Buchanan, Hâkan Telenius, and Michael Hayden

Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
Hum. Mol. Genet. 1995 4: 1911-1918; doi:10.1093/hmg/4.10.1911 [Abstract] [PDF] [Request Permissions]  

C.A. Boucher, S.K. King, N. Carey, R. Krahe, C.L. Winchester, S. Rahman, T. Creavin, P. Mehji, M.E.S. Bailey, F.L. Chartier, S.D. Brown, M.J. Siciliano, and K.J. Johnson

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)_n repeat
Hum. Mol. Genet. 1995 4: 1919-1925; doi:10.1093/hmg/4.10.1919 [Abstract] [PDF] [Request Permissions]  

Eric Hahnen, Randolf Forkert, Christine Marke, Sabine Rudnik-Schöneborn, Jutta Schönling, Klaus Zerres, T. Creavin, and Brunhilde Wirth

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
Hum. Mol. Genet. 1995 4: 1927-1933; doi:10.1093/hmg/4.10.1927 [Abstract] [PDF] [Request Permissions]  

Juan-José Fuentes, Melanie A. Pritchard, Anna M. Planas, Assumpciò Bosch, Isidre Ferrer, and Xavier Estivill

A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart
Hum. Mol. Genet. 1995 4: 1935-1944; doi:10.1093/hmg/4.10.1935 [Abstract] [PDF] [Request Permissions]  

Oskar W. Smrzka, Ingrid Faé, Reinhard Stöger, Robert Kurzbauer, Gottfried Fischer, Traudi Henn, Andreas Weith, and Denise P. Barlow

Conservation of a maternal-specific methylation signal at the human IGF2R locus
Hum. Mol. Genet. 1995 4: 1945-1952; doi:10.1093/hmg/4.10.1945 [Abstract] [PDF] [Request Permissions]  

Mieko Matsushima, Kanji Kobayashi, Mitsuru Eml, Junko Saito, Kaoru Suzumori, and Yusuke Nakamura

Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation
Hum. Mol. Genet. 1995 4: 1953-1956; doi:10.1093/hmg/4.10.1953 [Abstract] [PDF] [Request Permissions]  

A.G. Morris, E. Gaitonde, P.J. McKenna, J.D. Mollon, and D.M. Hunt

CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset
Hum. Mol. Genet. 1995 4: 1957-1961; doi:10.1093/hmg/4.10.1957 [Abstract] [PDF] [Request Permissions]  

LINKAGE REPORTS:

Nathalie Nadal, Marie-Odile Rolland, Christine Tranchant, Laurence Reutenauer, Gabor Gyapay, Jean-Marie Warter, Jean-Louis Mandel, and Michel Konig

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family
Hum. Mol. Genet. 1995 4: 1963-1966; doi:10.1093/hmg/4.10.1963 [Abstract] [PDF] [Request Permissions]  

Marci M. Lesperance, James W. Hail, III, Fred H. Bess, Kunihiro Fukushima, Pawan K. Jain, Barbara Plopils, Theresa B.San Agustin, Hana Skarka, Richard J.H. Smith, Marketa Wills, and Edward R. Wilcox

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3
Hum. Mol. Genet. 1995 4: 1967-1972; doi:10.1093/hmg/4.10.1967 [Abstract] [PDF] [Request Permissions]  

M. Bamshad, P.A. Krakowiak, W.S. Watkins, S. Root, J.C. Carey, and L.B. Jorde

A gene for ulnar–mammary syndrome maps to 1 2q23–q24.1
Hum. Mol. Genet. 1995 4: 1973-1977; doi:10.1093/hmg/4.10.1973 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

Raffaele Paimirotta, Maria Cristina Curia, Diana L. Esposito, Rosa Vaianzano, Luca Messerini, Ferdinando Ficari, Maria Luisa Brandi, Francesco Tonelli, Renato Mariani-Costantini, Pasquale Battista, and Alessandro Cama

Novel mutations and inactivation of both alleles of the APC gene in desmoid tumors
Hum. Mol. Genet. 1995 4: 1979-1981; doi:10.1093/hmg/4.10.1979 [PDF] [Request Permissions]  

Kimberly A. McAllister, Melanie A. Baldwin, Arun K. Thukkani, Carol J. Gallione, Jonathan N. Berg, Mary E. Porteous, Allan E. Guttmacher, and Douglas A. Marchuk

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function
Hum. Mol. Genet. 1995 4: 1983-1985; doi:10.1093/hmg/4.10.1983 [PDF] [Request Permissions]  

Yutaka Kitamura, Nancy Scavarda, Samuel A. Wells, Jr, Charles E. Jackson, and Paul J. Goodfellow

Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B
Hum. Mol. Genet. 1995 4: 1987-1988; doi:10.1093/hmg/4.10.1987 [PDF] [Request Permissions]  

Sarah J. Plummer, Hoda Anton-Culver, Linda Webster, Jr, Barbara Noble, Shu Liao, Alexander Kennedy, Jerome Belinson, and Graham Casey

Detection of BRCA1 mutations by the protein truncation test
Hum. Mol. Genet. 1995 4: 1989-1991; doi:10.1093/hmg/4.10.1989 [PDF] [Request Permissions]  

Ichiro Satokata, Makoto Uchiyama, and Kiyoji Tanaka

Two novel splicing mutations in the XPA gene in patients with group A xeroderma pigmentosum
Hum. Mol. Genet. 1995 4: 1993-1994; doi:10.1093/hmg/4.10.1993 [PDF] [Request Permissions]  

Sau-Plng Kwan, Tracy L. Hagemann, R.Michael Blaese, Alan Knutsen, and Fred S. Rosen

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
Hum. Mol. Genet. 1995 4: 1995-1998; doi:10.1093/hmg/4.10.1995 [PDF] [Request Permissions]  

Masato Matsuki, Kohji Hashimoto, Kunihlko Yoshikawa, Hirokazu Yasuno, and Kiyofuml Yamanishi

Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp³²⁸ to val in Linker 12 domin of keratin 5
Hum. Mol. Genet. 1995 4: 1999-2000; doi:10.1093/hmg/4.10.1999 [PDF] [Request Permissions]  

Shuhua Yu, Dawen Yu, Bryan E. Hainline, Jacob L. Brener, Kathryn Wilson, Louise C. Wilson, Monique Oude-Luttikhuls, Richard C. Trembath, and Lee S. Weinstein

A deletion hot-spot in exon 7 of the G₈ gene (GNAS1) in patients with Aibright hereditary osteodystrophy
Hum. Mol. Genet. 1995 4: 2001-2002; doi:10.1093/hmg/4.10.2001 [PDF] [Request Permissions]  

Vincenzo Nigro, Paola Brunl, Alfredo Ciccodicola, Lulsa Polltano, Giovannl Nigro, Giullo Plluso, Vittorio Cappa, Angela E. Covone, Giovanni Romeo, and Michele D'Urso

SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function
Hum. Mol. Genet. 1995 4: 2003-2004; doi:10.1093/hmg/4.10.2003 [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1995 4: 2005; doi:10.1093/hmg/4.10.2005 [PDF] [Request Permissions]  

Corrigendum:

W.-L. Hwu, S.-C. Chuang, L.-P. Tsai, M.-H. Chang, S.-M. Chuang, and T.-R. Wang

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia
Hum. Mol. Genet. 1995 4: 2006; doi:10.1093/hmg/4.10.2006 [Abstract] [PDF] [Request Permissions]  

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