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Entries: 1-8  
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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
Authors: Hucthagowder, Vishwanathan; Morava, Eva; Kornak, Uwe; Lefeber, Dirk J.; Fischer, Björn; Dimopoulou, Aikaterini; Aldinger, Annika; Choi, Jiwon; Davis, Elaine C.; Abuelo, Dianne N.; Adamowicz, Maciej; Al-Aama, Jumana; Basel-Vanagaite, Lina; Fernandez, Bridget; Greally, Marie T.; Gillessen-Kaesbach, Gabriele; Kayserili, Hulya; Lemyre, Emmanuelle; Tekin, Mustafa; Türkmen, Seval; Tuysuz, Beyhan; Yüksel-Konuk, Berrin; Mundlos, Stefan; Van Maldergem, Lionel; Wevers, Ron A.; Urban, Zsolt
Date of Publication (YYYY-MM-DD): 2009-06
Title of Journal: Human Molecular Genetics
Volume: 18
Issue / Number: 12
Start Page: 2149
End Page: 2165
Document Type: Article
ID: 447495.0
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Authors: Zenker, Martin; Horn, Denise; Wieczorek, Dagmar; Allanson, Judith; Pauli, Silke; Van der Burgt, Ineke; Doerr, Helmuth-Guenther; Gaspar, Harald; Hofbeck, Michael; Gillessen-Kaesbach, Gabriele; Koch, Andreas; Meinecke, Peter; Mundlos, Stefan; Nowka, Anja; Rauch, Anita; Reif, Silke; Von Schnakenburg, Christian; Seidel, Heide; Wehner, Lars-Erik; Zweier, Christiane; Bauhuber, Susanne; Matejas, Verena; Kratz, Christian P.; Thomas, Christoph; Kutsche, Kerstin
Date of Publication (YYYY-MM-DD): 2007-06-23
Title of Journal: Journal of Medical Genetics
Volume: 44
Start Page: 651
End Page: 656
Sequence Number of Article: 1
Document Type: Article
ID: 324398.0
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2006-11-19
Title of Journal: American Journal of Medical Genetics Part A
Volume: 132A
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 305422.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2006-11-19
Title of Journal: American Journal of Medical Genetics Part A
Volume: 132A
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 305426.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera M.; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 132
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 271957.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera M.; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 132
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 273072.0
 
Full text / Content available
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
Authors: Tuerkmen, Seval; Gillessen-Kaesbach, Gabriele; Meinecke, Peter; Albrecht, Beate; Neumann, Luitgard M.; Hesse, Volker; Palanduz, Suekrue; Balg, Stefanie; Majewski, Frank; Fuchs, Sigrun; Zschieschang, Petra; Greiwe, Monika; Mennicke, Kirsteen; Kreuz, Friedmar R.; Dehmel, Harald J.; Rodeck, Burkhard; Kunze, Juergen; Tinschert, Sigrid; Mundlos, Stefan; Horn, Denise
Date of Publication (YYYY-MM-DD): 2003-11
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 11
Start Page: 858
End Page: 865
Document Type: Article
ID: 175489.0
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome
Authors: Musante, Luciana; Kehl, Hans G.; Majewski, Frank; Meinecke, Peter; Schweiger, Susann; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Hinkel, Georg K.; Tinschert, Siegrid; Hoeltzenbein, Maria; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2003-02
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 2
Start Page: 201
End Page: 206
Document Type: Article
ID: 127778.0
Entries: 1-8  
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