Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 7

Results: 19

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 718, doi. 10.1002/humu.20510

By:

Collin, Rob W.J.;
Kalay, Ersan;
Oostrik, Jaap;
Çaylan, Refik;
Wollnik, Bernd;
Arslan, Selçuk;
den Hollander, Anneke I.;
Birinci, Yelda;
Lichtner, Peter;
Strom, Tim M.;
Toraman, Bayram;
Hoefsloot, Lies H.;
Cremers, Cor W.R.J.;
Brunner, Han G.;
Cremers, Frans P.M.;
Karaguzel, Ahmet;
Kremer, Hannie

Publication type:

Article

RILM: a web-based resource to aid comparative and functional analysis of the insulin and IGF-1 receptor family.

Published in:

2007

By:

Garza-Garcia, Acely;
Patel, Dhaval S.;
Gems, David;
Driscoll, Paul C.

Publication type:

Other

Pathogenic mutations in Parkinson disease.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 641, doi. 10.1002/humu.20507

By:

Tan, Eng-King;
Skipper, Lisa M.

Publication type:

Article

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 741, doi. 10.1002/humu.9498

By:

Qian, Jinhua;
Deveault, Catherine;
Bagga, Rashmi;
Xie, Xing;
Slim, Rima

Publication type:

Article

A new variant database for mismatch repair genes associated with Lynch syndrome.

Published in:

2007

By:

Woods, Michael O.;
Williams, Phillip;
Careen, Amanda;
Edwards, Laura;
Bartlett, Sylvia;
McLaughlin, John R.;
Younghusband, H. Banfield

Publication type:

Other

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9501

By:

Burdon, Kathryn P.;
Sharma, Shiwani;
Chen, Celia S.;
Dimasi, David P.;
Mackey, David A.;
Craig, Jamie E.

Publication type:

Article

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 674, doi. 10.1002/humu.20546

By:

Ullmann, Reinhard;
Turner, Gillian;
Kirchhoff, Maria;
Chen, Wei;
Tonge, Bruce;
Rosenberg, Carla;
Field, Michael;
Vianna-Morgante, Angela M.;
Christie, Louise;
Krepischi-Santos, Ana C.;
Banna, Lynn;
Brereton, Avril V.;
Hill, Alyssa;
Bisgaard, Anne-Marie;
Müller, Ines;
Hultschig, Claus;
Erdogan, Fikret;
Wieczorek, Georg;
Ropers, H. Hilger

Publication type:

Article

Human Mutation bids farewell to co-editor Haig H. Kazazian, Jr.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. v, doi. 10.1002/humu.20597

By:

Cotton, Richard G.H.

Publication type:

Article

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 694, doi. 10.1002/humu.20498

By:

Trevisson, Eva;
Salviati, Leonardo;
Baldoin, Maria Cristina;
Toldo, Irene;
Casarin, Alberto;
Sacconi, Sabrina;
Cesaro, Luca;
Basso, Giuseppe;
Burlina, Alberto B.

Publication type:

Article

A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9500

By:

Lissens, Willy;
Arena, Alessia;
Seneca, Sara;
Rafi, Mohammad;
Sorge, Giovanni;
Liebaers, Inge;
Wenger, David;
Fiumara, Agata

Publication type:

Article

Haig H. Kazazian, Jr.: a fifteen-year commitment to excellence.

Published in:: 2007
Publication type:: Other

Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 703, doi. 10.1002/humu.20500

By:

Bal, E.;
Baala, L.;
Cluzeau, C.;
El Kerch, F.;
Ouldim, K.;
Hadj-Rabia, S.;
Bodemer, C.;
Munnich, A.;
Courtois, G.;
Sefiani, A.;
Smahi, A.

Publication type:

Article

Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 724, doi. 10.1002/humu.20511

By:

Bocciardi, Renata;
Giorda, Roberto;
Buttgereit, Jens;
Gimelli, Stefania;
Divizia, Maria Teresa;
Beri, Silvana;
Garofalo, Silvio;
Tavella, Sara;
Lerone, Margherita;
Zuffardi, Orsetta;
Bader, Michael;
Ravazzolo, Roberto;
Gimelli, Giorgio

Publication type:

Article

Promoter polymorphisms in the MATP ( SLC45A2) gene are associated with normal human skin color variation.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 710, doi. 10.1002/humu.20504

By:

Graf, Justin;
Voisey, Joanne;
Hughes, Ian;
van Daal, Angela

Publication type:

Article

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 732, doi. 10.1002/humu.20515

By:

Leoyklang, Petcharat;
Suphapeetiporn, Kanya;
Siriwan, Pichit;
Desudchit, Tayard;
Chaowanapanja, Pattraporn;
Gahl, William A;
Shotelersuk, Vorasuk

Publication type:

Article

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase ( TYR).

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 683, doi. 10.1002/humu.20492

By:

Chan, Philip A.;
Duraisamy, Sekhar;
Miller, Peter J.;
Newell, Joan A.;
McBride, Carole;
Bond, Jeffrey P.;
Raevaara, Tiina;
Ollila, Saara;
Nyström, Minna;
Grimm, Andrew J.;
Christodoulou, John;
Oetting, William S.;
Greenblatt, Marc S.

Publication type:

Article

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 739, doi. 10.1002/humu.20508

By:

Beetz, Christian;
Zuchner, Stephan;
Ashley-Koch, Allison;
Auer-Grumbach, Michaela;
Byrne, Paula;
Chinnery, Patrick F.;
Hutchinson, Michael;
McDermott, Christopher J.;
Meijer, Inge A.;
Nygren, Anders O.H.;
Pericak-Vance, Margaret;
Pyle, Angela;
Rouleau, Guy A.;
Schickel, Jörg;
Shaw, Pamela J.;
Deufel, Thomas

Publication type:

Article

PKDB: Polycystic Kidney Disease Mutation Database-a gene variant database for autosomal dominant polycystic kidney disease.

Published in:

2007

By:

Gout, Alexander M.;
Martin, Neilson C.;
Brown, Alastair F.;
Ravine, David

Publication type:

Other

p.Gln200Glu, a putative constitutively active mutant of rod α-transducin ( GNAT1) in autosomal dominant congenital stationary night blindness.

Published in:

Human Mutation, 2007, v. 28, n. 7, p. 741, doi. 10.1002/humu.9499

By:

Szabo, Viktoria;
Kreienkamp, Hans-Jürgen;
Rosenberg, Thomas;
Gal, Andreas

Publication type:

Article