Novel PORCN mutations in focal dermal hypoplasia
Froyen, G, Govaerts, K, Van Esch, H, Verbeeck, J, Tuomi, M-L, Heikkilä, H, Torniainen, S, Devriendt, K, Fryns, J-P, Marynen, P, Järvelä, I, Ala-Mello, S
Published in Clinical genetics (01.12.2009)
Published in Clinical genetics (01.12.2009)
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Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1
Rakkolainen, A, Ala-Mello, S, Kristo, P, Orpana, A, Järvelä, I
Published in Journal of medical genetics (01.04.2002)
Published in Journal of medical genetics (01.04.2002)
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Journal Article
Nephronophthisis and ulcerative colitis in siblings : a new association
ALA-MELLO, Sirpa, KÄÄRIÄINEN, Helena, KOSKIMIES, Olli
Published in Pediatric nephrology (Berlin, West) (01.06.2001)
Published in Pediatric nephrology (Berlin, West) (01.06.2001)
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Journal Article
Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism
Ala-Mello, S, Sankila, E M, Koskimies, O, de la Chapelle, A, Kääriäinen, H
Published in Journal of medical genetics (01.04.1998)
Published in Journal of medical genetics (01.04.1998)
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
Labrijn-Marks, Ineke, Somers-Bolman, Galhana M, In 't Groen, Stijn L M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara Sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W, Hoefsloot, Lies H, Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Pijnappel, W W M Pim, Saris, Jasper J, Halley, Dicky J
Published in European journal of human genetics : EJHG (01.06.2019)
Published in European journal of human genetics : EJHG (01.06.2019)
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Journal Article
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
Bergmann, Carsten, Senderek, Jan, Windelen, Ellen, Küpper, Fabian, Middeldorf, Iris, Schneider, Frank, Dornia, Christian, Rudnik-Schöneborn, Sabine, Konrad, Martin, Schmitt, Claus P., Seeman, Tomas, Neuhaus, Thomas J., Vester, Udo, Kirfel, Jutta, Büttner, Reinhard, Zerres, Klaus
Published in Kidney international (01.03.2005)
Published in Kidney international (01.03.2005)
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Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome
Loid, Petra, Lipsanen-Nyman, Marita, Ala-Mello, Sirpa, Hannula-Jouppi, Katariina, Kere, Juha, Mäkitie, Outi, Muurinen, Mari
Published in Frontiers in pediatrics (04.10.2022)
Published in Frontiers in pediatrics (04.10.2022)
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Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass
Muurinen, Mari, Taylan, Fulya, Tournis, Symeon, Eisfeldt, Jesper, Balanika, Alexia, Vastardis, Heleni, Ala‐Mello, Sirpa, Mäkitie, Outi, Costantini, Alice
Published in JBMR plus (01.08.2022)
Published in JBMR plus (01.08.2022)
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Journal Article
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
Claes, Lieve, Ceulemans, Berten, Audenaert, Dominique, Smets, Katrien, Löfgren, Ann, Del-Favero, Jurgen, Ala-Mello, Sirpa, Basel-Vanagaite, Lina, Plecko, Barbara, Raskin, Salmo, Thiry, Paul, Wolf, Nicole I., Van Broeckhoven, Christine, De Jonghe, Peter
Published in Human mutation (01.06.2003)
Published in Human mutation (01.06.2003)
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Journal Article
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
Vuorela, Pia, Ala-Mello, Sirpa, Saloranta, Carola, Penttinen, Maila, Pöyhönen, Minna, Huoponen, Kirsi, Borozdin, Wiktor, Bausch, Birke, Botzenhart, Elke M, Wilhelm, Christian, Kääriäinen, Helena, Kohlhase, Jürgen
Published in Genetics in medicine (01.10.2007)
Published in Genetics in medicine (01.10.2007)
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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
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
McIntosh, Iain, Dreyer, Sandra D., Clough, Mark V., Dunston, Jennifer A., Eyaid, Wafa'a, Roig, Carmen M., Montgomery, Tara, Ala-Mello, Sirpa, Kaitila, Ilkka, Winterpacht, Andreas, Zabel, Bernhard, Frydman, Moshe, Cole, William G., Francomano, Clair A., Lee, Brendan
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
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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
Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36
Schuermann, Maria J., Otto, Edgar, Becker, Achim, Saar, Katrin, Rüschendorf, Franz, Polak, Bettine C., Ala-Mello, Sirpa, Hoefele, Julia, Wiedensohler, Alexander, Haller, Maria, Omran, Heymut, Nürnberg, Peter, Hildebrandt, Friedhelm
Published in American journal of human genetics (01.05.2002)
Published in American journal of human genetics (01.05.2002)
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