Sirpa Ala-Mello

Publications

Research output per year 2002 2002 2010 2019 2022 2022

• 12 Article
• 2 Chapter
• 1 Meeting Abstract
• 1 Conference article

Research output per year

Research output per year

Search results

• 2022

  Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

  Loid, P., Lipsanen-Nyman, M., Ala-Mello, S., Hannula-Jouppi, K., Kere, J., Mäkitie, O. & Muurinen, M., 4 Oct 2022, In: Frontiers in pediatrics. 10, 6 p., 969881.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File

• Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

  Muurinen, M., Taylan, F., Tournis, S., Eisfeldt, J., Balanika, A., Vastardis, H., Ala-Mello, S., Mäkitie, O. & Costantini, A., Aug 2022, In: JBMR plus. 6, 8, 9 p., 10660.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2019

  Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

  Labrijn-Marks, I., Somers-Bolman, G. M., Groen, S. L. M. I., Hoogeveen-Westerveld, M., Kroos, M. A., Ala-Mello, S., Amaral, O., Miranda, C. S., Mavridou, I., Michelakakis, H., Naess, K., Verheijen, F. W., Hoefsloot, L. H., Dijkhuizen, T., Benjamins, M., van den Hout, H. J. M., van der Ploeg, A. T., Pijnappel, W. W. M. P., Saris, J. J. & Halley, D. J., Jun 2019, In: European Journal of Human Genetics. 27, 6, p. 919-927 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2013

  Deletion of TOP3 beta, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

  Stoll, G., Pietiläinen, O., Linder, B., Suvisaari, J., Brosi, C., Hennah, W., Leppä, V. M., Torniainen, M., Ripatti, S., Ala-Mello, S., Plottner, O., Rehnstrom, K., Tuulio-Henriksson, A., Varilo, T., Tallila, J., Kristiansson, K., Isohanni, M., Kaprio, J., Eriksson, J. G. & Raitakari, O. T. & 13 others, Lehtimaki, T., Jarvelin, M.-R., Salomaa, V., Hurles, M., Stefansson, H., Palotie, L., Sullivan, P. F., Paunio, T., Lönnqvist, J., Daly, M. J., Fischer, U., Freimer, N. B. & Palotie, A., Sept 2013, In: Nature Neuroscience. 16, 9, p. 1228-U99 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2012

  High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results

  Siggberg, L., Ala-Mello, S., Linnankivi, T., Avela, K., Scheinin, I., Kristiansson, K., Lahermo, P., Hietala, M., Metsähonkala, E.-L., Kuusinen, E., Laaksonen, M., Saarela, J. & Knuutila, S., 2012, In: BMC Medical Genetics. 13, 10 p., 84.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File
• 2011

  Epilepsy caused by CDKL5 mutations

  Castren, M., Gaily, E., Tengstrom, C., Lahdetie, J., Archer, H. & Ala-Mello, S., 2011, In: European Journal of Paediatric Neurology. 15, 1, p. 65-69 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2010

  Array CGH in Molecular Diagnosis of Mental Retardation-A Study of 150 Finnish Patients

  Siggberg, L., Ala-Mello, S. A., Jaakkola, E., Kuusinen, E., Schuit, R., Kohlhase, J., Boehm, D., Ignatius, J. & Knuutila, S., 2010, In: American Journal of Medical Genetics. Part A. 152A, 6, p. 1398-1410 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Chromosomal Abnormalities in Finnish Orofacial Cleft Patients: Excess of Submucous Cleft Patients?

  Klockars, T., Ala-Mello, S. & Rautio, J., 2010, In: Cleft Palate - Craniofacial Journal. 47, 4, p. 352-358 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

  Liao, Y., Deprez, L., Maljevic, S., Pitsch, J., Claes, L., Hristova, D., Jordanova, A., Ala-Mello, S., Bellan-Koch, A., Blazevic, D., Schubert, S., Thomas, E. A., Petrou, S., Becker, A. J., De Jonghe, P. & Lerche, H., May 2010, In: Brain : a journal of neurology. 133, p. 1403-1414 12 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2008

  Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly: clinical report

  Ala-Mello, S., Siggberg, L., Knuutila, S., Koskull, H. V., Taskinen, M. & Peippo, M., 2008, In: American Journal of Medical Genetics. Part A. 146A, 19, p. 2490-2494 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2005

  Clinical and mutational spectrum of Mowat-Wilson syndrome

  Zweier, C., Thiel, C. T., Dufke, A., Crow, Y. J., Meinecke, P., Suri, M., Ala-Mello, S., Beemer, F., Bernasconi, S., Bianchi, P., Bier, A., Devriendt, K., Dimitrov, B., Firth, H., Gallagher, R. C., Garavelli, L., Gillessen-Kaesbach, G., Hudgins, L., Kääriäinen, H. & Karstens, S. & 21 others, Krantz, I., Mannhardt, A., Medne, L., Kibaek, M., Nylandsted Krogh, L., Peippo, M., Rittinger, O., Schulz, S., Schelley, S. L., Temple, I. K., Dennis, N. R., Van der Knaap, M. S., Wheeler, P., Yerushalmi, B., Zenker, M., Seidel, H., Lachmeijer, A., Prescott, T., Kraus, C., Lowry, R. B. & Rauch, A., 2005, In: European Journal of Medical Genetics. 48, p. 97-111 15 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2002

  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., Apr 2002, In: Journal of Medical Genetics. 39, 4, p. 292-296 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

  File