Adams–Oliver syndrome caused by mutations of the EOGT gene
Schröder, Kim C., Duman, Duygu, Tekin, Mustafa, Schanze, Denny, Sukalo, Maja, Meester, Josephina, Wuyts, Wim, Zenker, Martin
Published in American journal of medical genetics. Part A (01.11.2019)
Published in American journal of medical genetics. Part A (01.11.2019)
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Journal Article
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome
Hwang, Cheol-Sang, Sukalo, Maja, Batygin, Olga, Addor, Marie-Claude, Brunner, Han, Aytes, Antonio Perez, Mayerle, Julia, Song, Hyun Kyu, Varshavsky, Alexander, Zenker, Martin
Published in PloS one (13.09.2011)
Published in PloS one (13.09.2011)
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Journal Article
Johanson-Blizzard syndrome
Almashraki, Nabeel, Abdulnabee, Mukarram Zainuddin, Sukalo, Maja, Alrajoudi, Abdullah, Sharafadeen, Iman, Zenker, Martin
Published in World journal of gastroenterology : WJG (07.10.2011)
Published in World journal of gastroenterology : WJG (07.10.2011)
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Journal Article
Clinical utility gene card for: Johanson-Blizzard syndrome
Sukalo, Maja, Mayerle, Julia, Zenker, Martin
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Journal Article
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation
Atik, Tahir, Karakoyun, Miray, Sukalo, Maja, Zenker, Martin, Ozkinay, Ferda, Aydoğdu, Sema
Published in Gene (01.10.2015)
Published in Gene (01.10.2015)
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Journal Article
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies
Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S V, Taylor, Edward J, Collinson, Claire S, Ruddy, Deborah, Snape, Katie M, Dallapiccola, Bruno, Tolmie, John L, Joss, Shelagh, Brancati, Francesco, Digilio, M Cristina, Graul-Neumann, Luitgard M, Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D, Trembath, Richard C
Published in Circulation. Cardiovascular genetics (01.08.2015)
Published in Circulation. Cardiovascular genetics (01.08.2015)
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Journal Article
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Snape, Katie M., Trembath, Richard, De Smedt, Maryse, van der Aa, Nathalie, Skalej, Martin, Mundlos, Stefan, Wuyts, Wim, Southgate, Laura, Zenker, Martin
Published in Human mutation (01.06.2015)
Published in Human mutation (01.06.2015)
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Journal Article
Johanson-blizzard syndrome
Godbole, Koumudi, Maja, Sukalo, Leena, Hiremath, Martin, Zenker
Published in Indian pediatrics (08.05.2013)
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Published in Indian pediatrics (08.05.2013)
Journal Article
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Bramswig, Nuria C., Snape, Katie M., Trembath, Richard, De Smedt, Maryse, van der Aa, Nathalie, Skalej, Martin, Mundlos, Stefan, Wuyts, Wim, Southgate, Laura, Zenker, Martin
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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Journal Article
Oblique facial clefts in Johanson-Blizzard syndrome
Corona-Rivera, Jorge Román, Zapata-Aldana, Eugenio, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Peña-Padilla, Christian, Solis-Hernández, Elizabeth, Guzmán, Celina, Richmond, Erick, Zahl, Christian, Zenker, Martin, Sukalo, Maja
Published in American journal of medical genetics. Part A (01.06.2016)
Published in American journal of medical genetics. Part A (01.06.2016)
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Journal Article
Novel ubiquitin protein ligase E3 component N-Recognin 1 gene mutation in johanson–blizzard syndrome: Development of hypothyroidism during infancy
Celik, Muhittin, Bulbul, Ali, Kirbiyik, Özgür, Kesim, Belgin, Uslu, Sinan, Sukalo, Maja, Zenker, Martin
Published in Journal of clinical neonatology (01.07.2017)
Published in Journal of clinical neonatology (01.07.2017)
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Journal Article
Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis
Sukalo, Maja, Schäflein, Eva, Schanze, Ina, Everman, David B., Rezaei, Nima, Argente, Jesús, Lorda‐Sanchez, Isabel, Deshpande, Charu, Takahashi, Tsutomu, Kleger, Alexander, Zenker, Martin
Published in Molecular genetics & genomic medicine (01.11.2017)
Published in Molecular genetics & genomic medicine (01.11.2017)
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Journal Article
Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR 1 gene by multiplex ligation‐dependent probe amplification analysis
Sukalo, Maja, Schäflein, Eva, Schanze, Ina, Everman, David B., Rezaei, Nima, Argente, Jesús, Lorda‐Sanchez, Isabel, Deshpande, Charu, Takahashi, Tsutomu, Kleger, Alexander, Zenker, Martin
Published in Molecular genetics & genomic medicine (01.11.2017)
Published in Molecular genetics & genomic medicine (01.11.2017)
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Journal Article
Case reports & correspondence
Sriram, P., Balachandar, B. V., Raja, Antenioe Jude, Patra, Soumya, Singh, Ajit Pal, Srinivas, B. C., Shah, Ankit, John, Biju M., Sondhi, Vishal, Godbole, Koumudi, Maja, Sukalo, Leena, Hiremath, Martin, Zenker, Atas, Erman, Kesik, Vural, Kismet, Erol, Koseoglu, Vedat, Arun, Babu T., Verma, Nishant, Lodha, Rakesh, Menon, Prema, Rao, K. L. N., Jagadish Kumar, K., Manjunath, V. G., Bhat, D., Singh, H., Xu, Ai-Jing, Tang, L., Patil, M. M., Akki, A. S., Shivaprakash Sosale, C., Ramabhatta, Sujatha, Jeeva Sankar, M., Kalaivani, Mani, Soma, V., Venkatesh, C., Krishnamurthy, Sriram, Srinivasaraghavan, Rangan, Karthikeyan, G., Krishna, Mani Ram, Manickavasagam, Singaravelu
Published in Indian pediatrics (01.05.2013)
Published in Indian pediatrics (01.05.2013)
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Journal Article