Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)
Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C.M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita
Published in American journal of human genetics (01.05.2007)
Published in American journal of human genetics (01.05.2007)
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Journal Article
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
Zweier, Markus, Peippo, Maarit M., Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Journal Article
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
Hoyer, Juliane, Dreweke, Alexander, Becker, Christian, Göhring, Ina, Thiel, Christian T, Peippo, Maarit M, Rauch, Ralf, Hofbeck, Michael, Trautmann, Udo, Zweier, Christiane, Zenker, Martin, Hüffmeier, Ulrike, Kraus, Cornelia, Ekici, Arif B, Rüschendorf, Franz, Nürnberg, Peter, Reis, André, Rauch, Anita
Published in Journal of medical genetics (01.10.2007)
Published in Journal of medical genetics (01.10.2007)
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Journal Article
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
Ala‐Mello, Sirpa, Siggberg, Linda, Knuutila, Sakari, von Koskull, Harriet, Taskinen, Mervi, Peippo, Maarit
Published in American journal of medical genetics. Part A (01.10.2008)
Published in American journal of medical genetics. Part A (01.10.2008)
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Journal Article
PAK3 related mental disability: Further characterization of the phenotype
Peippo, Maarit, Koivisto, Anne M., Särkämö, Teppo, Sipponen, Marjatta, von Koskull, Harriet, Ylisaukko-oja, Tero, Rehnström, Karola, Froyen, Guy, Ignatius, Jaakko, Järvelä, Irma
Published in American journal of medical genetics. Part A (15.10.2007)
Published in American journal of medical genetics. Part A (15.10.2007)
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Journal Article
9q22 Deletion--first familial case
Siggberg, Linda, Peippo, Maarit, Sipponen, Marjatta, Miikkulainen, Taina, Shimojima, Keiko, Yamamoto, Toshiyuki, Ignatius, Jaakko, Knuutila, Sakari
Published in Orphanet journal of rare diseases (22.06.2011)
Published in Orphanet journal of rare diseases (22.06.2011)
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Journal Article
Clinical and Mutational Spectrum of Mowat–Wilson Syndrome
Zweier, Christiane, Thiel, Christian T, Dufke, Andreas, Crow, Yanick J, Meinecke, Peter, Suri, Mohnish, Ala-Mello, Sirpa, Beemer, Frits, Bernasconi, Sergio, Bianchi, Paolo, Bier, Andrea, Devriendt, Koen, Dimitrov, Boyan, Firth, Helen, Gallagher, Renata C, Garavelli, Livia, Gillessen-Kaesbach, Gabriele, Hudgins, Louanne, Kääriäinen, Helena, Karstens, Susan, Krantz, Ian, Mannhardt, Anca, Medne, Livija, Mücke, Jürgen, Kibaek, Maria, Krogh, Lotte Nylandsted, Peippo, Maarit, Rittinger, Olaf, Schulz, Solveig, L Schelley, Susan, Temple, I Karen, Dennis, Nick R, Van der Knaap, Marjo S, Wheeler, Patricia, Yerushalmi, Baruch, Zenker, Martin, Seidel, Heide, Lachmeijer, A, Prescott, Trine, Kraus, Cornelia, Lowry, R Brian, Rauch, Anita
Published in European journal of medical genetics (01.04.2005)
Published in European journal of medical genetics (01.04.2005)
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Journal Article
Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome
Oksanen, Virpi E, Arvio, Maria A, Peippo, Maarit M, Valanne, Leena K, Sainio, Kimmo O
Published in Pediatric neurology (2004)
Published in Pediatric neurology (2004)
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Journal Article
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females
Pöyhönen, Minna H, Peippo, Maarit M, Valanne, Leena K, Kuokkanen, Kirsti E, Koskela, Susanna M, Bartsch, Oliver, Rasi, Sasan, Wiebe, Glenis J, Kähkönen, Marketta, Kääriäinen, Helena A
Published in Clinical dysmorphology (01.04.2004)
Published in Clinical dysmorphology (01.04.2004)
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X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes
Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma
Published in Orphanet journal of rare diseases (11.04.2014)
Published in Orphanet journal of rare diseases (11.04.2014)
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Journal Article
Dysmorphic facial features in aspartylglucosaminuria patients and carriers
Arvio, Maria A, Peippo, Maarit M, Arvio, Pekka J, Kääriäinen, Helena A
Published in Clinical dysmorphology (01.01.2004)
Published in Clinical dysmorphology (01.01.2004)
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Journal Article
Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation
Froyen, Guy, Corbett, Mark, Vandewalle, Joke, Jarvela, Irma, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Van Esch, Hilde, Chelly, Jamel, Sanlaville, Damien, van Bokhoven, Hans, Ropers, Hans-Hilger, Laumonnier, Frederic, Ranieri, Enzo, Schwartz, Charles E., Abidi, Fatima, Tarpey, Patrick S., Futreal, P. Andrew, Whibley, Annabel, Raymond, F. Lucy, Stratton, Michael R., Fryns, Jean-Pierre, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Partington, Michael, Mowat, David, Field, Michael, Hackett, Anna, Marynen, Peter, Turner, Gillian, Gécz, Jozef
Published in American journal of human genetics (01.02.2008)
Published in American journal of human genetics (01.02.2008)
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Journal Article
Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11
Marshall, Christian R., Young, Edwin J., Pani, Ariel M., Freckmann, Mary-Louise, Lacassie, Yves, Howald, Cédric, Fitzgerald, Kristi K., Peippo, Maarit, Morris, Colleen A., Shane, Kate, Priolo, Manuela, Morimoto, Masafumi, Kondo, Ikuko, Manguoglu, Esra, Berker-Karauzum, Sibel, Edery, Patrick, Hobart, Holly H., Mervis, Carolyn B., Zuffardi, Orsetta, Reymond, Alexandre, Kaplan, Paige, Tassabehji, May, Gregg, Ronald G., Scherer, Stephen W., Osborne, Lucy R.
Published in American journal of human genetics (01.07.2008)
Published in American journal of human genetics (01.07.2008)
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Journal Article
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
Brunner, Han G, Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F, Newbury-Ecob, Ruth, Kjaergaard, Susanne, Goodship, Judith, McGowan, Ruth, Bartholdi, Deborah, Rauch, Anita, Peippo, Maarit, Cobben, Jan M, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Veltman, Joris A, de Vries, Bert B B A
Published in Nature genetics (01.08.2011)
Published in Nature genetics (01.08.2011)
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Journal Article
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease
Aziz, N A, Jurgens, C K, Landwehrmeyer, G B, van Roon-Mom, W M C, van Ommen, G J B, Stijnen, T, Roos, R A C
Published in Neurology (20.10.2009)
Published in Neurology (20.10.2009)
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Journal Article
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example
Pohjola, Pia, Peippo, Maarit, Penttinen, Maila T, Elenius, Klaus, Kääriäinen, Helena
Published in Genetic testing and molecular biomarkers (01.10.2012)
Published in Genetic testing and molecular biomarkers (01.10.2012)
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Journal Article
The first Finnish patient with the Floating‐Harbor syndrome: The follow‐up of eight years
Ala‐Mello, Sirpa, Peippo, Maarit
Published in American journal of medical genetics. Part A (15.10.2004)
Published in American journal of medical genetics. Part A (15.10.2004)
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Journal Article