Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 1

Results: 33

Ourania Horaitis: Linking Human Mutation and the HUGO-Mutation Database Initiative.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 1, doi. 10.1002/1098-1004(2001)17:1<1::AID-HUMU1>3.0.CO;2-#

By:

Paalman, Mark H.

Publication type:

Article

A novel polymorphism IVS2+843C>T in the alternate promoter b1 of the human AE2 anion exchanger gene.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 82, doi. 10.1002/1098-1004(2001)17:1<82::AID-HUMU32>3.0.CO;2-O

By:

Lecanda, Jon;
Urtasun, Raquel;
Recalde, Sergio;
Prieto, Jesús;
Medina, Juan F.

Publication type:

Article

Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 74, doi. 10.1002/1098-1004(2001)17:1<74::AID-HUMU14>3.0.CO;2-F

By:

Perdu, Jérôme;
Germain, Dominique P.

Publication type:

Article

Y688X, the first nonsense mutation in familial Mediterranean fever (FMF).

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 79, doi. 10.1002/1098-1004(2001)17:1<79::AID-HUMU23>3.0.CO;2-2

By:

Notarnicola, Cécile;
Manna, Raffaele;
Rey, Jean Marc;
Touitou, Isabelle

Publication type:

Article

Factor VII deficiency and the FVII mutation database.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 3, doi. 10.1002/1098-1004(2001)17:1<3::AID-HUMU2>3.0.CO;2-V

By:

McVey, John H.;
Boswell, Emma;
Mumford, Andrew D.;
Kemball-Cook, Geoffrey;
Tuddenham, Edward G.D.

Publication type:

Article

Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 52, doi. 10.1002/1098-1004(2001)17:1<52::AID-HUMU6>3.0.CO;2-E

By:

Jakubowska, Anna;
Górski, Bohdan;
Kurzawski, Grzegorz;
Debniak, Tadeusz;
Hadaczek, Piotr;
Cybulski, Cezary;
Kladny, Józef;
Oszurek, Oleg;
Scott, Rodney J.;
Lubinski, Jan

Publication type:

Article

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 72, doi. 10.1002/1098-1004(2001)17:1<72::AID-HUMU11>3.0.CO;2-U

By:

Crosnier, Cécile;
Driancourt, Catherine;
Raynaud, Nicole;
Hadchouel, Michelle;
Meunier-Rotival, Michèle

Publication type:

Article

Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 79, doi. 10.1002/1098-1004(2001)17:1<79::AID-HUMU22>3.0.CO;2-5

By:

Matsuyama, Wataru;
Nakagawa, Masanori;
Takashima, Hiroshi;
Muranaga, Fuminori;
Sano, Yuji;
Osame, Mitsuhiro

Publication type:

Article

A novel polymorphism (-88 C>A) in the 5′ UTR of the p53R2 gene.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 82, doi. 10.1002/1098-1004(2001)17:1<82::AID-HUMU33>3.0.CO;2-L

By:

Smeds, Johanna;
Nava, Mariachiara;
Kumar, Rajiv;
Hemminki, Kari

Publication type:

Article

Prevalence of BRCA1 founder mutations in western Poland.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 75, doi. 10.1002/1098-1004(2001)17:1<75::AID-HUMU15>3.0.CO;2-9

By:

Jasinska, Anna;
Krzyzosiak, Wlodzimierz J.

Publication type:

Article

A new Msp I polymorphism (g1741G>A) in intron 3 of the human d-aminolevulinate dehydratase gene.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 80, doi. 10.1002/1098-1004(2001)17:1<80::AID-HUMU26>3.0.CO;2-J

By:

Roy, Bidyut;
Sikdar, Nilabja;
Ghosh, Samiran;
Majumder, Partha P.

Publication type:

Article

Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 77, doi. 10.1002/1098-1004(2001)17:1<77::AID-HUMU19>3.0.CO;2-S

By:

Acosta, A.X.;
Silva, W.A.;
Carvalho, T.M.;
Zago, M.A.

Publication type:

Article

A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 80, doi. 10.1002/1098-1004(2001)17:1<80::AID-HUMU25>3.0.CO;2-M

By:

Matsumura, Takehiko;
Osaka, Hitoshi;
Inoue, Ken;
Sugiyama, Naoya;
Onishi, Hideki;
Yamada, Yoshiteru;
Hayashi, Masaharu;
Kosaka, Kenji

Publication type:

Article

Identification of two highly informative STRs (GT)15-25 and (GT)9-21 within the critical region of RP25.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 79, doi. 10.1002/1098-1004(2001)17:1<79::AID-HUMU24>3.0.CO;2-#

By:

Marcos, I.;
Borrego, S.;
Ruiz, A.;
Galán, J.J.;
Antiñolo, G.

Publication type:

Article

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 42, doi. 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K

By:

Sohocki, Melanie M.;
Daiger, Stephen P.;
Bowne, Sara J.;
Rodriquez, Joseph A.;
Northrup, Hope;
Heckenlively, John R.;
Birch, David G.;
Mintz-Hittner, Helen;
Ruiz, Richard S.;
Lewis, Richard A.;
Saperstein, David A.;
Sullivan, Lori S.

Publication type:

Article

Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: A splice junction mutation in intron 5 and cluster of four mutations in exon 15.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 72, doi. 10.1002/1098-1004(2001)17:1<72::AID-HUMU10>3.0.CO;2-X

By:

Bodzioch, Marek;
Lapicka, Katarzyna;
Aslanidis, Charalampos;
Kacinski, Marek;
Schmitz, Gerd

Publication type:

Article

A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 78, doi. 10.1002/1098-1004(2001)17:1<78::AID-HUMU21>3.0.CO;2-B

By:

Yamada, Yasukazu;
Goto, Haruko;
Wakamatsu, Nobuaki;
Ogasawara, Nobuaki

Publication type:

Article

Identification of the first reported splice site mutation (IVS7-1G→A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 76, doi. 10.1002/1098-1004(2001)17:1<76::AID-HUMU17>3.0.CO;2-0

By:

Toone, Jennifer R.;
Applegarth, Derek A.;
Coulter-Mackie, Marion B.;
James, Erick R.

Publication type:

Article

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 71, doi. 10.1002/1098-1004(2001)17:1<71::AID-HUMU9>3.0.CO;2-0

By:

Matsukawa, Ritsu;
Iida, Kazuki;
Nakayama, Masako;
Mukai, Tsunehiro;
Okita, Yutaka;
Ando, Motomi;
Takamoto, Shinichi;
Nakajima, Nobuyuki;
Morisaki, Hiroko;
Morisaki, Takayuki

Publication type:

Article

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 34, doi. 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O

By:

Zwaenepoel, Ingrid;
Verpy, Elisabeth;
Blanchard, Stéphane;
Meins, Moritz;
Apfelstedt-Sylla, Eckart;
Gal, Andreas;
Petit, Christine

Publication type:

Article

Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 76, doi. 10.1002/1098-1004(2001)17:1<76::AID-HUMU18>3.0.CO;2-Y

By:

Bochmann, H.;
Geisel, J.;
Herrmann, W.;
Purcz, T.;
Reuter, W.;
Julius, U.;
Metzler, W.;
Bergmann, S.;
Jaross, W.;
Gehrisch, S.

Publication type:

Article

Identification of genetic variants (g789C>T and G111S) in the human HSPB2 gene.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 81, doi. 10.1002/1098-1004(2001)17:1<81::AID-HUMU29>3.0.CO;2-7

By:

Hahner, Axel;
Erdmann, Jeanette;
Kallisch, Heike;
Fleck, Eckart;
Regitz-Zagrosek, Vera

Publication type:

Article

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 77, doi. 10.1002/1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H

By:

Hunter, Michael;
Angelicheva, Dora;
Levy, Harvey L.;
Pueschel, Sigfried M.;
Kalaydjieva, Luba

Publication type:

Article

A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 81, doi. 10.1002/1098-1004(2001)17:1<81::AID-HUMU31>3.0.CO;2-U

By:

Wu, Mei-Chen;
Wu, Jer-Yuarn;
Lee, Cheng-Chun;
Tsai, Chang-Hai;
Tsai, Fuu-Jen

Publication type:

Article

Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer families.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 74, doi. 10.1002/1098-1004(2001)17:1<74::AID-HUMU13>3.0.CO;2-I

By:

Vaziri, Susan A.J.;
Krumroy, Lisa M.;
Rostai, Majid;
Casey, Graham

Publication type:

Article

Is the Ala138Gly alteration of MEFV gene important for amyloidosis?

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 71, doi. 10.1002/1098-1004(2001)17:1<71::AID-HUMU8>3.0.CO;2-3

By:

Akar, E.;
Yalcinkaya, F.;
Akar, N.

Publication type:

Article

Exon skipping in the ATM gene in normal individuals: The effect of blood sample storage on RT-PCR analysis.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 75, doi. 10.1002/1098-1004(2001)17:1<75::AID-HUMU16>3.0.CO;2-6

By:

Birrell, Geoff W.;
Ramsay, Jonathan R.;
Tung, Jeffrey J.;
Lavin, Martin F.

Publication type:

Article

T>C transition in codon 72 (TCG→CCG), S72P, a putative hotspot in PMP22.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 81, doi. 10.1002/1098-1004(2001)17:1<81::AID-HUMU28>3.0.CO;2-A

By:

Ekici, Arif B.;
Park, Oksoon;
Korinthenberg, Rudolf;
Grehl, Holger;
Rautenstrauß, Bernd

Publication type:

Article

Jagged1 mutations in Alagille syndrome.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 18, doi. 10.1002/1098-1004(2001)17:1<18::AID-HUMU3>3.0.CO;2-T

By:

Spinner, Nancy B.;
Colliton, Raymond P.;
Crosnier, Cécile;
Krantz, Ian D.;
Hadchouel, Michelle;
Meunier-Rotival, Michèle

Publication type:

Article

A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: A mutation cluster within exon 20.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 81, doi. 10.1002/1098-1004(2001)17:1<81::AID-HUMU30>3.0.CO;2-X

By:

Dedic, J.;
Weiss, A.S.;
Katahira, J.;
Yu, B.;
Trent, R.J.;
Urbán, Z.

Publication type:

Article

Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 61, doi. 10.1002/1098-1004(2001)17:1<61::AID-HUMU7>3.0.CO;2-9

By:

Duponchel, Christiane;
Di Rocco, Christiana;
Cicardi, Marco;
Tosi, Mario

Publication type:

Article

BRCA2 germline mutations in male breast cancer patients in the Polish population.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 73, doi. 10.1002/1098-1004(2001)17:1<73::AID-HUMU12>3.0.CO;2-O

By:

Kwiatkowska, Eliza;
Teresiak, Marek;
Lamperska, Katarzyna M.;
Karczewska, Aldona;
Breborowicz, Danuta;
Stawicka, Malgorzata;
Godlewski, Dariusz;
Krzyzosiak, Wlodzimierz J.;
Mackiewicz, Andrzej

Publication type:

Article

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.

Published in:

Human Mutation, 2001, v. 17, n. 1, p. 80, doi. 10.1002/1098-1004(2001)17:1<80::AID-HUMU27>3.0.CO;2-G

By:

Trujillo, María José;
Martinez-Gimeno, María;
Giménez, Ascensión;
Lorda, Isabel;
Bueno, José;
García-Sandoval, Blanca;
Ramos, Carmen;
Carballo, Miguel;
Ayuso, Carmen

Publication type:

Article

Works matching IS 10597794 AND DT 2001 AND VI 17 AND IP 1

Ourania Horaitis: Linking Human Mutation and the HUGO-Mutation Database Initiative.

A novel polymorphism IVS2+843C>T in the alternate promoter b<sub>1</sub> of the human AE2 anion exchanger gene.

Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum.

Y688X, the first nonsense mutation in familial Mediterranean fever (FMF).

Factor VII deficiency and the FVII mutation database.

Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes.

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.

Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms.

A novel polymorphism (-88 C>A) in the 5′ UTR of the p53R2 gene.

Prevalence of BRCA1 founder mutations in western Poland.

A new Msp I polymorphism (g1741G>A) in intron 3 of the human d-aminolevulinate dehydratase gene.

Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.

A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

Identification of two highly informative STRs (GT)<sub>15-25</sub> and (GT)<sub>9-21 </sub>within the critical region of RP25.

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: A splice junction mutation in intron 5 and cluster of four mutations in exon 15.

A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3.

Identification of the first reported splice site mutation (IVS7-1G→A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Eight novel LDL receptor gene mutations among patients under LDL apheresis in Dresden and Leipzig.

Identification of genetic variants (g789C>T and G111S) in the human HSPB2 gene.

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family.

Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer families.

Is the Ala138Gly alteration of MEFV gene important for amyloidosis?

Exon skipping in the ATM gene in normal individuals: The effect of blood sample storage on RT-PCR analysis.

T>C transition in codon 72 (TCG→CCG), S72P, a putative hotspot in PMP22.

Jagged1 mutations in Alagille syndrome.

A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: A mutation cluster within exon 20.

Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients.

BRCA2 germline mutations in male breast cancer patients in the Polish population.

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.