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  Human Molecular Genetics: October 1995 (Volume 4, No 10)  
  October 01, 1995

virtual library in human genetics and molecular biology

Executive Editors:-
K E Davies, Oxford, UK
Huntington F Willard, Cleveland, OH, USA

Oxford University Press
  Date of publishing: October, 1995  
  ISSN 1964-6906


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



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.

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.

For further information please contact: Richard Gedye
Oxford University Press

Walton Street
Oxford OX2 6DP, United Kingdom
  Posted by:   Richard Gedye (Gedye)  
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