Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) von 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

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Pitt-Hopkins Syndrome von Peippo, M., Ignatius, J.

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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients von Zweier, C, Sticht, H, Bijlsma, E K, Clayton-Smith, J, Boonen, S E, Fryer, A, Greally, M T, Hoffmann, L, den Hollander, N S, Jongmans, M, Kant, S G, King, M D, Lynch, S A, McKee, S, Midro, A T, Park, S-M, Ricotti, V, Tarantino, E, Wessels, M, Peippo, M, Rauch, A

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Cardiovascular manifestations in 75 patients with Williams syndrome von Eronen, M, Peippo, M, Hiippala, A, Raatikka, M, Arvio, M, Johansson, R, Kähkönen, M

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Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays von 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

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The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B von Zweier, Markus, Peippo, Maarit M., Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita

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Valproate embryopathy in three sets of siblings: Further proof of hereditary susceptibility von MALM, H, KAJANTIE, E, KIVIRIKKO, S, KÄÄRIÄINEN, H, PEIPPO, M, SOMER, M

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A new genetic locus for X linked progressive cone-rod dystrophy von Jalkanen, R, Demirci, F Y, Tyynismaa, H, Bech-Hansen, T, Meindl, A, Peippo, M, Mäntyjärvi, M, Gorin, M B, Alitalo, T

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Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome von Oksanen, Virpi E, Arvio, Maria A, Peippo, Maarit M, Valanne, Leena K, Sainio, Kimmo O

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Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis von Arvio, M, Laiho, K, Kauppi, M, Peippo, M, Leino, P, Kautiainen, H, Kaipiainen-Seppänen, O, Mononen, I

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Applicability of a checklist for clinical screening of the fragile X syndrome von Arvio, M., Peippo, M., Simola, K. O. J.

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Dysmorphic facial features in aspartylglucosaminuria patients and carriers von Arvio, Maria A, Peippo, Maarit M, Arvio, Pekka J, Kääriäinen, Helena A

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Clinical and Mutational Spectrum of Mowat–Wilson Syndrome von 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

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Quality of life and costs of levonorgestrel-releasing intrauterine system or hysterectomy in the treatment of menorrhagia: a 10-year randomized controlled trial von Heliövaara-Peippo, Satu, MD, PhD, Hurskainen, Ritva, MD, PhD, Teperi, Juha, MD, PhD, Aalto, Anna-Mari, PhD, Grénman, Seija, MD, PhD, Halmesmäki, Karoliina, MD, PhD, Jokela, Markus, PhD, Kivelä, Aarre, MD, PhD, Tomás, Eija, MD, PhD, Tuppurainen, Marjo, MD, PhD, Paavonen, Jorma, MD, PhD

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Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example von Pohjola, Pia, Peippo, Maarit, Penttinen, Maila T, Elenius, Klaus, Kääriäinen, Helena

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The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B von Zweier, Markus, Peippo, Maarit M, Pöyhönen, Minna, Kääriäinen, Helena, Begemann, Anaïs, Joset, Pascal, Oneda, Beatrice, Rauch, Anita

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Striking Founder Effect for the Fragile X Syndrome in Finland von Oudet, C., von Koskull, H., Nordström, A.M., Peippo, M., Mandel, J.L.

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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome von Hoischen, A, van Bon, B W M, Rodríguez-Santiago, B, Gilissen, C, Vissers, L E L M, de Vries, P, Janssen, I, van Lier, B, Hastings, R, Smithson, S F, Newbury-Ecob, R, Kjaergaard, S, Goodship, J, McGowan, R, Bartholdi, D, Rauch, A, Peippo, M, Cobben, J M, Wieczorek, D, Gillessen-Kaesbach, G, Veltman, J A, Brunner, H G, de Vries, B B B A

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Bone marrow transplantation for aspartylglucosaminuria: Follow-up study of transplanted and non-transplanted patients von Arvio, Maria, Sauna-aho, Oili, Peippo, Maarit

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The first Finnish patient with the Floating‐Harbor syndrome: The follow‐up of eight years von Ala‐Mello, Sirpa, Peippo, Maarit

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