Volume 107, Issue 6

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December 2000

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15 articles in this issue

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
Tomotsugu Yasuda
Naoki Yamaguchi
Takeyori Saheki
Original Investigations Pages: 537 - 545
Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)
Anne Romstad
H. Serap Kalkanoğlu
Flemming Güttler
Original Investigations Pages: 546 - 553
Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy
Claudia Helmken
Brunhilde Wirth
Original Investigations Pages: 554 - 558
Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population
Roberto Colombo
Angelo A. Bignamini
Tatsushi Toda
Original Investigations Pages: 559 - 567
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients
Alessandra Tessitore
Guglielmo R. D. Villani
Paola Di Natale
Original Investigations Pages: 568 - 576
Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene
Laura Lee
Jennifer Dowhanick-Morrissette
Ian D. Krantz
Original Investigations Pages: 577 - 581
Y chromosome haplotypes reveal prehistorical migrations to the Himalayas
Bing Su
Chunjie Xiao
Li Jin
Original Investigations Pages: 582 - 590
Association of the TNF-α-308 (G→A) polymorphism with self-reported history of childhood asthma
Elizabeth C. Winchester
Iona Y. Millwood
Anna M. Kessling
Original Investigations Pages: 591 - 596
Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
Christina Chakarova
Manfred S. Wehnert
Dieter O. Fürst
Original Investigations Pages: 597 - 611
Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda
L. Christiansen
A. Bygum
N. E. Petersen
Original Investigations Pages: 612 - 614
Multilocus genetic analysis of single interphase cells by spectral imaging
J. Fung
H. -U. G. Weier
R. A. Pedersen
Original Investigations Pages: 615 - 622
Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?
George S. Charames
Anna L. Millar
Bharati Bapat
Original Investigations Pages: 623 - 629
High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews
Almut Nebel
Dvora Filon
Mark G. Thomas
Original Investigations Pages: 630 - 641
The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia
Gaëlle Pennarun
Catherine Chapelin
Bénédicte Duriez
Original Investigations Pages: 642 - 649
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination
Han N. Lim
Gary D. Berkovitz
J. Ross Hawkins
Original Investigations Pages: 650 - 652

Volume 107, Issue 6

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)

Exclusion of Htra2-β1, an up-regulator of full-length SMN2 transcript, as a modifying gene for spinal muscular atrophy

Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population

Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene

Y chromosome haplotypes reveal prehistorical migrations to the Himalayas

Association of the TNF-α-308 (G→A) polymorphism with self-reported history of childhood asthma

Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family

Association between CYP1A2 polymorphism and susceptibility to porphyria cutanea tarda

Multilocus genetic analysis of single interphase cells by spectral imaging

Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?

High-resolution Y chromosome haplotypes of Israeli and Palestinian Arabs reveal geographic substructure and substantial overlap with haplotypes of Jews

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination

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