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Volume 107; Issue 1
Main
Human Genetics
Volume 107; Issue 1
Human Genetics
Volume 107; Issue 1
1
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3
S. Brian Potterf
,
Minao Furumura
,
Karen J. Dunn
,
Heinz Arnheiter
,
William J. Pavan
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 132 KB
Vos balises:
english, 2000
2
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment
Kristien Verhoeven
,
Toril Fagerheim
,
Sai Prasad
,
Sigrid Wayne
,
Frank De Clau
,
Wendy Balemans
,
Margriet Verstreken
,
Isabelle Schatteman
,
Bjorn Solem
,
Paul Van de Heyning
,
Lisbeth Tranebjärg
,
Richard J.
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 115 KB
Vos balises:
english, 2000
3
Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community
Anthi Drousiotou
,
Goula Stylianidou
,
Violetta Anastasiadou
,
George Christopoulos
,
Eleni Mavrikiou
,
Theodoros Georgiou
,
Gabriel Kalakoutis
,
Adebayo Oladimeji
,
Yoji Hara
,
Kunihiko Suzuki
,
Kenichi Furiha
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 69 KB
Vos balises:
english, 2000
4
Familial typical migraine: significant linkage and localization of a gene to Xq24-28
Dale R. Nyholt
,
Robert P. Curtain
,
Lyn R. Griffiths
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 115 KB
Vos balises:
english, 2000
5
Effect of nonsense mutations on PTEN mRNA stability
Anthony M. Raizis
,
Martin M. Ferguson
,
Peter M. George
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 83 KB
Vos balises:
english, 2000
6
Female fetal cells in maternal blood: use of DNA polymorphisms to prove origin
Osamu Samura
,
Barbara Pertl
,
Satoshi Sohda
,
Kirby L. Johnson
,
Akihiko Sekizawa
,
Vincent M. Falco
,
R. Sarah Elmes
,
Diana W. Bianchi
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 48 KB
Vos balises:
english, 2000
7
Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours
Martin P. Horan
,
David N. Cooper
,
Meena Upadhyaya
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 300 KB
Vos balises:
english, 2000
8
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect
Carol J. Gallione
,
Erin A. Scheessele
,
Diana Reinhardt
,
Ashley J. Duits
,
Jonathan N. Berg
,
Cornelius J.J. Westermann
,
Douglas A. Marchuk
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 34 KB
Vos balises:
english, 2000
9
MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions
Lucia Cavelier
,
Elena Jazin
,
Paula Jalonen
,
Ulf Gyllensten
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 91 KB
Vos balises:
english, 2000
10
Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals
Martin Granzow
,
Susanne Popp
,
Monika Keller
,
Heidi Holtgreve-Grez
,
Michaela Brough
,
Brigitte Schoell
,
Inge Rauterberg-Ruland
,
Hans-Dieter Hager
,
Gholamali Tariverdian
,
Anna Jauch
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 115 KB
Vos balises:
english, 2000
11
Relationship between E-selectin L/F554 polymorphism and blood pressure in the Stanislas cohort
Catherine Sass
,
Celine Pallaud
,
Faiez Zannad
,
Sophie Visvikis
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 32 KB
Vos balises:
english, 2000
12
Microscopic assessment of pronuclear embryos is not definitive
Alvin Soon Tiong Lim
,
Victor Hng Hang Goh
,
Cai Lan Su
,
Su Ling Yu
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 59 KB
Vos balises:
english, 2000
13
Characterization and localization of human COX17, a gene involved in mitochondrial copper transport
Fiona A. Punter
,
Denise L. Adams
,
D. Moira Glerum
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 123 KB
Vos balises:
english, 2000
14
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy
Radha Ayyagari
,
Laura E. Kakuk
,
Eve L. Bingham
,
Janet J. Szczesny
,
Jennifer Kemp
,
Yumiko Toda
,
Joost Felius
,
Paul A. Sieving
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 181 KB
Vos balises:
english, 2000
15
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family
Hannaleena Kokkonen
,
Jaakko Leisti
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 37 KB
Vos balises:
english, 2000
16
Variant detection at the d opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence
Joel Gelernter
,
Henry R. Kranzler
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 27 KB
Vos balises:
english, 2000
17
Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1
Felix K. Jacobi
,
Martina Broghammer
,
Katrin Pesch
,
Eberhart Zrenner
,
Wolfgang Berger
,
Alfons Meindl
,
Carsten M. Pusch
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 29 KB
Vos balises:
english, 2000
18
Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies
Anna M. Estop
,
Kathy Cieply
,
Santiago Munne
,
Urvashi Surti
,
Anthony Wakim
,
Eleanor Feingold
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 8 KB
Vos balises:
english, 2000
19
Inheritance of heart rate variability: the kibbutzim family study
Ronit Sinnreich
,
Yechiel Friedlander
,
Myron H. Luria
,
Dan Sapoznikov
,
Jeremy Kark
Journal:
Human Genetics
Année:
2000
Fichier:
PDF, 8 KB
Vos balises:
2000
20
MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions
Lucia Cavelier,Elena Jazin,Paula Jalonen,Ulf Gyllensten
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 91 KB
Vos balises:
english, 2000
21
Effect of nonsense mutations onPTENmRNA stability
Anthony M. Raizis,Martin M. Ferguson,Peter M. George
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 83 KB
Vos balises:
english, 2000
22
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment
Kristien Verhoeven,Toril Fagerheim,Sai Prasad,Sigrid Wayne…
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 115 KB
Vos balises:
english, 2000
23
Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals
Martin Granzow,Susanne Popp,Monika Keller,Heidi Holtgreve-Grez…
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 115 KB
Vos balises:
english, 2000
24
Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of theNF1gene in NF1-specific tumours
Martin P. Horan,David N. Cooper,Meena Upadhyaya
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 300 KB
Vos balises:
english, 2000
25
Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community
Anthi Drousiotou,Goula Stylianidou,Violetta Anastasiadou…
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 69 KB
Vos balises:
english, 2000
26
Relationship between E-selectin L/F554 polymorphism and blood pressure in the Stanislas cohort
Catherine Sass,Celine Pallaud,Faiez Zannad,Sophie Visvikis
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 32 KB
Vos balises:
english, 2000
27
Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect
Carol J. Gallione,Erin A. Scheessele,Diana Reinhardt,Ashley J. Duits…
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 34 KB
Vos balises:
english, 2000
28
Female fetal cells in maternal blood: use of DNA polymorphisms to prove origin
Osamu Samura,Barbara Pertl,Satoshi Sohda,Kirby L. Johnson…
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 48 KB
Vos balises:
english, 2000
29
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3
S. Brian Potterf,Minao Furumura,Karen J. Dunn,Heinz Arnheiter…
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 132 KB
Vos balises:
english, 2000
30
Familial typical migraine: significant linkage and localization of a gene to Xq24–28
Dale R. Nyholt,Robert P. Curtain,Lyn R. Griffiths
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 115 KB
Vos balises:
english, 2000
31
Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies
Estop, Anna M.
,
Cieply, Kathy
,
Munne, Santiago
,
Surti, Urvashi
,
Wakim, Anthony
,
Feingold, Eleanor
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 8 KB
Vos balises:
english, 2000
32
Microscopic assessment of pronuclear embryos is not definitive
Alvin Soon Tiong Lim,Victor Hng Hang Goh,Cai Lan Su,Su Ling Yu
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 59 KB
Vos balises:
english, 2000
33
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family
Hannaleena Kokkonen,Jaakko Leisti
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 37 KB
Vos balises:
english, 2000
34
Physical mapping and exclusion ofGPR34as the causative gene for congenital stationary night blindness type 1
Felix K. Jacobi,Martina Broghammer,Katrin Pesch,Eberhart Zrenner…
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 29 KB
Vos balises:
english, 2000
35
Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy
Radha Ayyagari,Laura E. Kakuk,Eve L. Bingham,Janet J. Szczesny…
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 181 KB
Vos balises:
english, 2000
36
Characterization and localization of humanCOX17,a gene involved in mitochondrial copper transport
Fiona A. Punter,Denise L. Adams,D. Moira Glerum
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 123 KB
Vos balises:
english, 2000
37
Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence
Joel Gelernter,Henry R. Kranzler
Journal:
Human Genetics
Année:
2000
Langue:
english
Fichier:
PDF, 27 KB
Vos balises:
english, 2000
38
Inheritance of heart rate variability: the kibbutzim family study
Sinnreich, Ronit
,
Friedlander, Yechiel
,
Luria, Myron H.
,
Sapoznikov, Dan
,
Kark, Jeremy
Journal:
Human Genetics
Année:
2000
Fichier:
PDF, 8 KB
Vos balises:
2000
1
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