Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 3

Results: 21

A novel heteroplasmic point mutation in the mitochondrial tRNALys gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 203, doi. 10.1002/(SICI)1098-1004(1999)13:3<203::AID-HUMU4>3.0.CO;2-3
By:
- Houshmand, Massoud;
- Lindberg, Christopher;
- Moslemi, Ali-Reza;
- Oldfors, Anders;
- Holme, Elisabeth
Publication type:
Article
Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU11>3.0.CO;2-P
By:
- Palmer, Mark S.;
- Beck, Jonathan A.;
- Campbell, Tracy A.;
- Humphries, Christine B.;
- Roques, Penelope K.;
- Fox, Nick C.;
- Harvey, Richard;
- Rossor, Martin N.;
- Collinge, John
Publication type:
Article
The FANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variability.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 237, doi. 10.1002/(SICI)1098-1004(1999)13:3<237::AID-HUMU8>3.0.CO;2-F
By:
- Tachibana, Akira;
- Kato, Takesi;
- Ejima, Yosuke;
- Yamada, Toshiko;
- Shimizu, Takashi;
- Yang, Lichun;
- Tsunematsu, Yukiko;
- Sasaki, Masao S.
Publication type:
Article
Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 186, doi. 10.1002/(SICI)1098-1004(1999)13:3<186::AID-HUMU2>3.0.CO;2-K
By:
- Rødningen, Olaug K.;
- Tonstad, Serena;
- Saugstad, Ola Didrik;
- Ose, Leiv;
- Leren, Trond P.
Publication type:
Article
A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU20>3.0.CO;2-I
By:
- Gathungu, Grace;
- Kim, Hung Jeff;
- Morell, Robert J.
Publication type:
Article
Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU13>3.0.CO;2-J
By:
- Scarano, Maria I.;
- De Rosa, Marina;
- Panariello, Luigi;
- Carlomagno, Nicola;
- Riegler, Gabriele;
- Rossi, Giovanni B.;
- Bucci, Luigi;
- Pesce, Giuseppe;
- Toni, Federico;
- Renda, Andrea;
- Izzo, Paola
Publication type:
Article
Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 221, doi. 10.1002/(SICI)1098-1004(1999)13:3<221::AID-HUMU6>3.0.CO;2-U
By:
- Ketterling, Rhett P.;
- Drost, Joni B.;
- Scaringe, William A.;
- Liao, Dong-zhou;
- Liu, Jing-zhong;
- Kasper, Carol K.;
- Sommer, Steve S.
Publication type:
Article
Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU17>3.0.CO;2-1
By:
- Peters, Hartmut;
- Lüder, Andrea;
- Harder, Anja;
- Schuelke, Markus;
- Tinschert, Sigrid
Publication type:
Article
Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 175, doi. 10.1002/(SICI)1098-1004(1999)13:3<175::AID-HUMU1>3.0.CO;2-R
By:
- Mutch, Matthew G.;
- Dilley, William G.;
- Sanjurjo, Francisco;
- DeBenedetti, Mary K.;
- Doherty, Gerard M.;
- Wells, Samuel A.;
- Goodfellow, Paul J.;
- Lairmore, Terry C.
Publication type:
Article
Novel mutations associated with carnitine palmitoyltransferase II deficiency.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 210, doi. 10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0
By:
- Taggart, R. Thomas;
- Smail, David;
- Apolito, Christopher;
- Vladutiu, Georgirene D.
Publication type:
Article
Repopulation of ρ0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNAGly results in respiratory chain dysfunction.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 245, doi. 10.1002/(SICI)1098-1004(1999)13:3<245::AID-HUMU9>3.0.CO;2-B
By:
- Raha, Sandeep;
- Merante, Frank;
- Shoubridge, Eric;
- Myint, A. Tomoko;
- Tein, Ingrid;
- Benson, Lee;
- Johns, Tim;
- Robinson, Brian H.
Publication type:
Article
Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 256, doi. 10.1002/(SICI)1098-1004(1999)13:3<256::AID-HUMU12>3.0.CO;2-M
By:
- Claes, Kathleen;
- Machackova, Eva;
- De Vos, Michel;
- Mortier, Geert;
- De Paepe, Anne;
- Messiaen, Ludwine
Publication type:
Article
β-thalassemia in the German population: Mediterranean, Asian and novel mutations.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU16>3.0.CO;2-4
By:
- Flatz, Gebhard;
- Wilke, Klaus;
- Syagailo, Yana V.;
- Eigel, Antonin;
- Horst, Jürgen
Publication type:
Article
Peutz-Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 257, doi. 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A
By:
- Kruse, Roland;
- Uhlhaas, Siegfried;
- Lamberti, Christof;
- Keller, Klaus M.;
- Jackisch, Christian;
- Steinhard, Johannes;
- Knöpfle, Gisela;
- Loff, Steffan;
- Back, Walter;
- Stolte, Manfred;
- Jungck, Matthias;
- Propping, Peter;
- Friedl, Waltraut;
- Jenne, Dieter E.
Publication type:
Article
A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU19>3.0.CO;2-T
By:
- Harder, Anja;
- Macsuga, Carmen;
- Tinschert, Sigrid;
- Nürnberg, Peter;
- Peters, Hartmut
Publication type:
Article
Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 197, doi. 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D
By:
- Marie, Sandrine;
- Cuppens, Harry;
- Heuterspreute, Michel;
- Jaspers, Martine;
- Tola, Eduardo Zambrano;
- Gu, Xiao Xiao;
- Legius, Eric;
- Vincent, M.-Françoise;
- Jaeken, Jaak;
- Cassiman, Jean-Jacques;
- Van den Berghe, Georges
Publication type:
Article
Mia Horowitz, Metsada Pasmanik-Chor, Zvi Borochowitz, Tzipora Falik-Zaccai, Keren Heldmann, Rivka Carmi, Ruth Parvari, Hannah Beit-Or, Boleslav Goldman, Lea Peleg, Ephrat Levy-Lahad, Paul Renbaum, Searl Legum, Ruth Shomrat, Hannah Yeger, Dalit Benbenisti, Ruth Navon, Vardit Dror, Mordechai Shohat, Nurit Magal, Nir Navot, and Nurit Eyal. 1998. Prevalance of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum Mutat 12:240-244.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 255, doi. 10.1002/(SICI)1098-1004(1999)13:3<255::AID-HUMU10>3.0.CO;2-V
Publication type:
Article
A novel missense mutation 14259 G>A in the mitochondrial NADH dehydrogenase 6 gene (MTND6).
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU21>3.0.CO;2-F
By:
- Aguilera, Isabel;
- García-Lozano, José-Raúl;
- Bautista, Juan;
- Núñez-Roldán, Antonio
Publication type:
Article
A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 232, doi. 10.1002/(SICI)1098-1004(1999)13:3<232::AID-HUMU7>3.0.CO;2-N
By:
- Panagopoulos, Ioannis;
- Lassen, Carin;
- Kristoffersson, Ulf;
- Åman, Pierre
Publication type:
Article
Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 257, doi. 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU14>3.0.CO;2-D
By:
- Ebhardt, Margit;
- Schmidt, Hartmut;
- Doerk, Thilo;
- Tietge, Uwe;
- Haas, Regina;
- Manns, Michael-Peter;
- Schmidtke, Joerg;
- Stuhrmann, Manfred
Publication type:
Article
X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1.
Published in:
Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU18>3.0.CO;2-W
By:
- Duval, Pierre-André;
- Marlhens, Françoise;
- Griffoin, Jean-Michel;
- Millet, Pierre;
- Arnaud, Bernard;
- Hamel, Christian P.
Publication type:
Article

Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 3

A novel heteroplasmic point mutation in the mitochondrial tRNA<sup>Lys</sup> gene in a sporadic case of mitochondrial encephalomyopathy: De novo mutation and no transmission to the offspring.

Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK.

The FANCA gene in Japanese Fanconi anemia: Reports of eight novel mutations and analysis of sequence variability.

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity.

A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele.

Familial adenomatous polyposis coli: Five novel mutations in exon 15 of the adenomatous polyposis coli (APC) gene in Italian patients.

Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients.

Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects.

Novel mutations associated with carnitine palmitoyltransferase II deficiency.

Repopulation of ρ<sup>0</sup> cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA<sup>Gly</sup> results in respiratory chain dysfunction.

Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease.

β-thalassemia in the German population: Mediterranean, Asian and novel mutations.

Peutz-Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene.

A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene.

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence.

A novel missense mutation 14259 G>A in the mitochondrial NADH dehydrogenase 6 gene (MTND6).

A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion.

Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations.

X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1.