Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 2

Results: 40

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #637 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166

By:

Paola Origone;
Carlo Bellini;
Debora Sambarino;
Barbara Banelli;
Guido Morcaldi;
Carmen La Rosa;
Franco Stanzial;
Claudio Castellan;
Domenico A. Coviello;
Cecilia Garrè;
Eugenio Bonioli

Publication type:

Article

Polymorphisms in fatty acid-binding protein-3 (FABP3) putative association with type 2 diabetes mellitus (Communicated by Pui-Yan Kwok) Online Citation: Human Mutation, Mutation in Brief #639 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/639.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9168

By:

Hyoung Doo Shin;
Lyoung Hyo Kim;
Byung Lae Park;
Hye Seung Jung;
Young Min Cho;
Min Kyong Moon;
Hong Kyu Lee;
Kyong Soo Park

Publication type:

Article

BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #635 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/635.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9164

By:

L. Stuppia;
P. Di Fulvio;
G. Aceto;
S. Pintor;
S. Veschi;
V. Gatta;
A. Colosimo;
E. Cianchetti;
A. Cama;
R. Mariani-Costantini;
P. Battista

Publication type:

Article

Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation (Communicated by Jacques Beckmann) Online Citation: Human Mutation, Mutation in Brief #636 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/636.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9165

By:

Rahma Melki;
Ahmed Belmouden;
Antoine Brézin;
Henri-Jean Garchon

Publication type:

Article

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria (Communicated by Richard G.H. Cotton) Online Citation: Human Mutation, Mutation in Brief #638 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167

By:

Barbara Günther;
Andrea Steiner;
Doris Nekahm-Heis;
Klaus Albegger;
Patrick Zorowka;
Gerd Utermann;
Andreas Janecke

Publication type:

Article

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #634 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/634.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9163

By:

A.J. Whitfield;
A.D. Marais;
K. Robertson

Publication type:

Article

Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #633 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/633.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9162

By:

Ann S.G. Lee;
G.H. Ho;
P.C. Oh;
C. Balram;
L.L. Ooi;
D.T.H. Lim;
C.Y. Wong

Publication type:

Article

Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle (Communicated by Arnold Munnich).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 175, doi. 10.1002/humu.10246

By:

Gert Van Goethem;
Ann Löfgren;
Bart Dermaut;
Chantal Ceuterick;
Jean-Jacques Martin;
Christine Van Broeckhoven

Publication type:

Article

Detection of mitochondrial DNA mutations in gestational trophoblastic disease (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #631 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/631.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9160

By:

Pui Man Chiu;
Vincent W.S. Liu;
Hextan Y.S. Ngan;
Ui Soon Khoo;
Annie N.Y. Cheung

Publication type:

Article

Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotyping (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 158, doi. 10.1002/humu.10248

By:

Cheryl A. Telmer;
Jiyan An;
David E. Malehorn;
Xuemei Zeng;
Susanne M. Gollin;
Chandramohan S. Ishwad;
Jonathan W. Jarvik

Publication type:

Article

Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip (Communicated by Jan P. Kraus).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 166, doi. 10.1002/humu.10247

By:

Yoichi Matsubara;
Shigeo Kure

Publication type:

Article

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene (Communicated by Graham R. Taylor).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245

By:

Ivon Cuscó;
Eva López;
Carolina Soler-Botija;
María Jesús Barceló;
Montserrat Baiget;
Eduardo F. Tizzano

Publication type:

Article

Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #632 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161

By:

Guido Fitze;
Mandy Schierz;
Eberhard Kuhlisch;
Matthias Schreiber;
Andreas Ziegler;
Dietmar Roesner;
Hans K. Schackert

Publication type:

Article

Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer (Communicated by Richard G.H. Cotton).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 173, doi. 10.1002/humu.10244

By:

Vincent W.S. Liu;
Yue Wang;
Hui-Juan Yang;
Percy C.K. Tsang;
Tong-Yow Ng;
Ling-Chui Wong;
Phillip Nagley;
Hextan Y.S. Ngan

Publication type:

Article

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240

By:

Michael Hunter;
Rafaëlle Bernard;
Elizabeth Freitas;
Amandine Boyer;
Bharti Morar;
Ian J. Martins;
Ivailo Tournev;
Albena Jordanova;
Velina Guergelcheva;
Boryana Ishpekova;
Ivo Kremensky;
Garth Nicholson;
Beate Schlotter;
Hanns Lochmüller;
Thomas Voit;
Jaume Colomer;
P.K. Thomas;
Nicolas Levy;
Luba Kalaydjieva

Publication type:

Article

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij (Communicated by Elizabeth Neufeld).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 144, doi. 10.1002/humu.10239

By:

Xiaohua Wu;
Jeffrey S. Rush;
Denise Karaoglu;
Donna Krasnewich;
Mark S. Lubinsky;
Charles J. Waechter;
Reid Gilmore;
Hudson H. Freeze

Publication type:

Article

Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancerCommunicated by Richard G.H. Cotton.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 173, doi. 10.1002/humu.10244

By:

Vincent W.S. Liu;
Yue Wang;
Hui?Juan Yang;
Percy C.K. Tsang;
Tong?Yow Ng;
Ling?Chui Wong;
Phillip Nagley;
Hextan Y.S. Ngan

Publication type:

Article

Founder mutation in the BRCA1 gene in Malay breast cancer patients from SingaporeCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #633 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/633.pdf.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9162

By:

Ann S.G. Lee;
G.H. Ho;
P.C. Oh;
C. Balram;
L.L. Ooi;
D.T.H. Lim;
C.Y. Wong;
G.S. Hong

Publication type:

Article

Detection of single nucleotide substitution by competitive allele?specific short oligonucleotide hybridization (CASSOH) with immunochromatographic stripCommunicated by Jan P. Kraus.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 166, doi. 10.1002/humu.10247

By:

Yoichi Matsubara;
Shigeo Kure

Publication type:

Article

Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (Communicated by Jurgen Horst) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243

By:

Gabriel Miltenberger-Miltenyi;
Franco Laccone

Publication type:

Article

Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome (Communicated by Haig H. Kazazian).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242

By:

E. Schollen;
E. Smeets;
E. Deflem;
J.P. Fryns;
G. Matthijs

Publication type:

Article

Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique (Communicated by Mireille Claustres).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241

By:

Bethan E. Hoskins;
Anita Thorn;
Peter J. Scambler;
Philip L. Beales

Publication type:

Article

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 geneCommunicated by Graham R. Taylor.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245

By:

Ivon Cuscó;
Eva López;
Carolina Soler?Botija;
María Jesús Barceló;
Montserrat Baiget;
Eduardo F. Tizzano

Publication type:

Article

Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals (Communicated by Mark H. Paalman) This article is a US government work, and, as such, is in the public domain of the United States of America)

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 121, doi. 10.1002/humu.10238

By:

Joni L. Rutter;
Amelia M. Smith;
Michael R. Dávila;
Alice J. Sigurdson;
Ruthann M. Giusti;
Marbin A. Pineda;
Michele M. Doody;
Margaret A. Tucker;
Mark H. Greene;
Jinghui Zhang;
Jeffery P. Struewing

Publication type:

Article

Polymorphisms in fatty acid?binding protein?3 (FABP3) – putative association with type 2 diabetes mellitusCommunicated by Pui?Yan KwokOnline Citation: Human Mutation, Mutation in Brief #639 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/639.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9168

By:

Hyoung Doo Shin;
Lyoung Hyo Kim;
Byung Lae Park;
Hye Seung Jung;
Young Min Cho;
Min Kyong Moon;
Hong Kyu Lee;
Kyong Soo Park

Publication type:

Article

The 342?kb deletion in GJB6 is not present in patients with non?syndromic hearing loss from AustriaCommunicated by Richard G.H. CottonOnline Citation:Human Mutation, Mutation in Brief #638 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167

By:

Barbara Günther;
Andrea Steiner;
Doris Nekahm?Heis;
Klaus Albegger;
Patrick Zorowka;
Gerd Utermann;
Andreas Janecke

Publication type:

Article

Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #637 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166

By:

Paola Origone;
Carlo Bellini;
Debora Sambarino;
Barbara Banelli;
Guido Morcaldi;
Carmen La Rosa;
Franco Stanzial;
Claudio Castellan;
Domenico A. Coviello;
Cecilia Garrè;
Eugenio Bonioli

Publication type:

Article

Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutationCommunicated by Jacques BeckmannOnline Citation:Human Mutation, Mutation in Brief #636 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/636.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9165

By:

Rahma Melki;
Ahmed Belmouden;
Antoine Brézin;
Henri?Jean Garchon

Publication type:

Article

BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central ItalyCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #635 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/635.pdf.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9164

By:

L. Stuppia;
P. Di Fulvio;
G. Aceto;
S. Pintor;
S. Veschi;
V. Gatta;
A. Colosimo;
E. Cianchetti;
A. Cama;
R. Mariani?Costantini;
P. Battista;
G. Palka

Publication type:

Article

Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #634 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/634.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9163

By:

A.J. Whitfield;
A.D. Marais;
K. Robertson;
P.H.R. Barrett;
F.M. van Bockxmeer;
J.R. Burnett

Publication type:

Article

Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening techniqueCommunicated by Mireille Claustres.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241

By:

Bethan E. Hoskins;
Anita Thorn;
Peter J. Scambler;
Philip L. Beales

Publication type:

Article

Novel intronic polymorphisms in the RET proto?oncogene and their association with Hirschsprung diseaseCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #632 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161

By:

Guido Fitze;
Mandy Schierz;
Eberhard Kuhlisch;
Matthias Schreiber;
Andreas Ziegler;
Dietmar Roesner;
Hans K. Schackert

Publication type:

Article

Detection of mitochondrial DNA mutations in gestational trophoblastic diseaseCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #631 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/631.pdf.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9160

By:

Pui Man Chiu;
Vincent W.S. Liu;
Hextan Y.S. Ngan;
Ui Soon Khoo;
Annie N.Y. Cheung

Publication type:

Article

Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotypingCommunicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 158, doi. 10.1002/humu.10248

By:

Cheryl A. Telmer;
Jiyan An;
David E. Malehorn;
Xuemei Zeng;
Susanne M. Gollin;
Chandramohan S. Ishwad;
Jonathan W. Jarvik

Publication type:

Article

Mutational analysis of the BRCA1?interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2?negative probands from breast?ovarian cancer families and among early?onset breast cancer cases and reference individualsCommunicated by Mark H. PaalmanThis article is a US government work, and, as such, is in the public domain of the United States of America

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 121, doi. 10.1002/humu.10238

By:

Joni L. Rutter;
Amelia M. Smith;
Michael R. Dávila;
Alice J. Sigurdson;
Ruthann M. Giusti;
Marbin A. Pineda;
Michele M. Doody;
Margaret A. Tucker;
Mark H. Greene;
Jinghui Zhang;
Jeffery P. Struewing

Publication type:

Article

Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/TwinkleCommunicated by Arnold Munnich.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 175, doi. 10.1002/humu.10246

By:

Gert Van Goethem;
Ann Löfgren;
Bart Dermaut;
Chantal Ceuterick;
Jean?Jacques Martin;
Christine Van Broeckhoven

Publication type:

Article

Deficiency of UDP?GlcNAc:Dolichol Phosphate N?Acetylglucosamine?1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type IjCommunicated by Elizabeth Neufeld.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 144, doi. 10.1002/humu.10239

By:

Xiaohua Wu;
Jeffrey S. Rush;
Denise Karaoglu;
Donna Krasnewich;
Mark S. Lubinsky;
Charles J. Waechter;
Reid Gilmore;
Hudson H. Freeze

Publication type:

Article

Mutations and polymorphisms in the human methyl CpG?binding protein MECP2Communicated by Jurgen HorstThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243

By:

Gabriel Miltenberger?Miltenyi;
Franco Laccone

Publication type:

Article

Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndromeCommunicated by Haig H. Kazazian.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242

By:

E. Schollen;
E. Smeets;
E. Deflem;
J.P. Fryns;
G. Matthijs

Publication type:

Article

Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240

By:

Michael Hunter;
Rafaëlle Bernard;
Elizabeth Freitas;
Amandine Boyer;
Bharti Morar;
Ian J. Martins;
Ivailo Tournev;
Albena Jordanova;
Velina Guergelcheva;
Boryana Ishpekova;
Ivo Kremensky;
Garth Nicholson;
Beate Schlotter;
Hanns Lochmüller;
Thomas Voit;
Jaume Colomer;
P.K. Thomas;
Nicolas Levy;
Luba Kalaydjieva

Publication type:

Article