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Entries: 1-5  
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A restricted spectrum of NRAS mutations causes Noonan syndrome
Authors: Cirstea, Ion C.; Kutsche, Kerstin; Dvorsky, Radovan; Gremer, Lothar; Carta, Claudio; Horn, Denise; Roberts, Amy E.; Lepri, Francesca; Merbitz-Zahradnik, Torsten; König, Rainer; Kratz, Christian P.; Pantaleoni, Francesca; Dentici, Maria L.; Joshi, Victoria A.; Kucherlapati, Raju S.; Mazzanti, Laura; Mundlos, Stefan; Patton, Michael A.; Silengo, Margherita Cirillo; Rossi, Cesare; Zampino, Giuseppe; Digilio, Cristina; Stuppia, Liborio; Seemanova, Eva; Pennacchio, Len A.; Gelb, Bruce D.; Dallapiccola, Bruno; Wittinghofer, Alfred; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin
Date of Publication (YYYY-MM-DD): 2010-01
Title of Journal: Nature Genetics
Volume: 42
Issue / Number: 1
Start Page: 27
End Page: 29
Sequence Number of Article: 1
Document Type: Article
ID: 442399.0
Mutations in PYCR1 cause cutis laxa with progeroid features
Authors: Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C.; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh; Shahwan, Monzer; Brancati, Francesco; Lee, Hane; O'Connor, Brian D.; Schmidt-von Kegler, Mareen; Merriman, Barry; Nelson, Stanley F.; Masri, Amira; Alkazaleh, Fawaz; Guerra, Deanna; Ferrari, Paola; Nanda, Arti; Rajab, Anna; Markie, David; Gray, Mary; Nelson, John; Grix, Arthur; Sommer, Annemarie; Savarirayan, Ravi; Janecke, Andreas R.; Steichen, Elisabeth; Sillence, David; Haußer, Ingrid; Budde, Birgit; Nürnberg, Gudrun; Nürnberg, Peter; Seemann, Petra; Kunkel, Désirée; Zambruno, Giovanna; Dallapiccola, Bruno; Schuelke, Markus; Robertson, Stephen; Hamamy, Hanan; Wollnik, Bernd; Van Maldergem, Lionel; Mundlos, Stefan; Kornak, Uwe
Date of Publication (YYYY-MM-DD): 2009-09
Title of Journal: Nature Genetics
Volume: 41
Start Page: 1016
End Page: 1021
Document Type: Article
ID: 447542.0
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
Authors: Douzgou, Sofia; Lehmann, Katarina; Mingarelli, Rita; Mundlos, Stefan; Dallapiccola, Bruno
Date of Publication (YYYY-MM-DD): 2008-07-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146A
Issue / Number: 16
Start Page: 2116
End Page: 2121
Document Type: Article
ID: 411646.0
 
Full text / Content available
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.
Authors: Castori, Marco; Brancati, Francesco; Mingarelli, Rita; Mundlos, Stefan; Dallapiccola, Bruno
Date of Publication (YYYY-MM-DD): 2007-02-01
Title of Journal: American Journal of Medical Genetics/ Part A
Volume: 143
Issue / Number: 2
Start Page: 195
End Page: 199
Document Type: Article
ID: 334852.0
 
Full text / Content available
An excess of chromosome 1 breakpoints in male infertility
Authors: Bache, Iben; Van Assche, Elvire; Cingoz, Sultan; Bugge, Merete; Tümer, Zeynep; Hjorth, Mads; Lundsteen, Claes; Lespinasse, James; Winther, Kirsten; Niebuhr, Anita; Kalscheuer, Vera; Liebaers, Inge; Bonduelle, Maryse; Tournaye, Herman; Ayuso, Carmen; Barbi, Gotthold; Blennow, Elisabeth; Bourrouillou, Georges; Brondum-Nielsen, Karen; Bruun-Petersen, Gert; Croquette, Marie-Francoise; Dahoun, Sophie; Dallapiccola, Bruno; Davison, Val; Delobel, Bruno; Duba, Hans-Christoph; Duprez, Laurence; Ferguson-Smith, Malcolm; FitzPatrick, David R; Grace, Elizabeth; Hansmann, Ingo; Hultén, Maj; Jensen, Peter K A; Jonveaux, Philippe; Kristoffersson, Ulf; Lopez-Pajares, Isidora; McGowan-Jordan, Jean; Murken, Jan; Orera, Maria; Parkin, Tony; Passarge, Eberhard; Ramos, Carmen; Rasmussen, Kirsten; Schempp, Werner; Schubert, Regine; Schwinger, Eberhard; Shabtai, Fiorella; Smith, Kim; Stallings, Raymond; Stefanova, Margarita; Tranebjerg, Lisbeth; Turleau, Catherine; van der Hagen, Carl Birger; Vekemans, Michel; Vokac, Nadja Kokalj; Wagner, Klaus; Wahlstroem, Jan; Zelante, Leopoldo; Tommerup, Niels
Date of Publication (YYYY-MM-DD): 2004-09-15
Title of Journal: European Journal of Human Genetics
Volume: 12
Issue / Number: 12
Start Page: 993
End Page: 1000
Document Type: Article
ID: 224261.0
Entries: 1-5  
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