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  Arthur Bergen: LITE: Human Molecular Genetics - Oct 95 iss.  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: LITE: Human Molecular Genetics - Oct 95 iss.
From: Arthur Bergen <bergen@AMC.UVA.NL>
Date: Tue, 5 Sep 1995 14:00:48 +0100

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


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
     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
     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


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
     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
     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


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


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


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

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.

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