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virtual library in human genetics and molecular biology

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.

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