A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
Froguel, P, Beckmann, J. S, Walters, R. G, Jacquemont, S, Valsesia, A, de Smith, A. J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J. S, Chèvre, J.-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J. L, Boute, O, Holder-Espinasse, M, Cuisset, J.-M, Lemaitre, M.-P, Ambresin, A.-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J.-L, Le Caignec, C, David, A, Isidor, B, Cordier, M.-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Õunap, K, Bochukova, E. G, Henning, E, Keogh, J, Ellis, R. J, MacDermot, K. D, van Haelst, M. M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R. F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A.-L, McCarthy, M. I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M. E, O'Rahilly, S, Farooqi, I. S, Männik, K, Jarvelin, M.-R, Pattou, F, Meyre, D, Walley, A. J, Coin, L. J. M, Blakemore, A. I. F
Published in Nature (London) (04.02.2010)
Published in Nature (London) (04.02.2010)
Get full text
Journal Article
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases
Tšuiko, O., Nõukas, M., Žilina, O., Hensen, K., Tapanainen, J.S., Mägi, R., Kals, M., Kivistik, P.A., Haller-Kikkatalo, K., Salumets, A., Kurg, A.
Published in Human reproduction (Oxford) (01.08.2016)
Published in Human reproduction (Oxford) (01.08.2016)
Get full text
Journal Article
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
van Bon, B W M, Mefford, H C, Menten, B, Koolen, D A, Sharp, A J, Nillesen, W M, Innis, J W, de Ravel, T J L, Mercer, C L, Fichera, M, Stewart, H, Connell, L E, Õunap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M A, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E M, Baker, C, Finnemore, P, Huang, S, Maloney, V K, Crolla, J A, van Kalmthout, M, Elia, M, Vandeweyer, G, Fryns, J P, Janssens, S, Foulds, N, Reitano, S, Smith, K, Parkel, S, Loeys, B, Woods, C G, Oostra, A, Speleman, F, Pereira, A C, Kurg, A, Willatt, L, Knight, S J L, Vermeesch, J R, Romano, C, Barber, J C, Mortier, G, Pérez-Jurado, L A, Kooy, F, Brunner, H G, Eichler, E E, Kleefstra, T, de Vries, B B A
Published in Journal of medical genetics (01.08.2009)
Published in Journal of medical genetics (01.08.2009)
Get full text
Journal Article
Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families
Žilina, O., Reimand, T., Zjablovskaja, P., Männik, K., Männamaa, M., Traat, A., Puusepp-Benazzouz, H., Kurg, A., Õunap, K.
Published in American journal of medical genetics. Part A (01.01.2012)
Published in American journal of medical genetics. Part A (01.01.2012)
Get full text
Journal Article
A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features
Preiksaitiene, E, Männik, K, Dirse, V, Utkus, A, Ciuladaite, Z, Kasnauskiene, J, Kurg, A, Kučinskas, V
Published in European journal of medical genetics (01.11.2012)
Published in European journal of medical genetics (01.11.2012)
Get full text
Journal Article
Sol–gel films for DNA microarray applications
Saal, K., Tätte, T., Tulp, I., Kink, I., Kurg, A., Mäeorg, U., Rinken, A., Lõhmus, A.
Published in Materials letters (01.07.2006)
Published in Materials letters (01.07.2006)
Get full text
Journal Article
Preparation of smooth siloxane surfaces for AFM visualization of immobilized biomolecules
Tätte, T., Saal, K., Kink, I., Kurg, A., Lõhmus, R., Mäeorg, U., Rahi, M., Rinken, A., Lõhmus, A.
Published in Surface science (10.06.2003)
Published in Surface science (10.06.2003)
Get full text
Journal Article
A speculative outlook on embryonic aneuploidy: Can molecular pathways be involved?
Tšuiko, Olga, Jatsenko, Tatjana, Parameswaran Grace, Lalit Kumar, Kurg, Ants, Vermeesch, Joris Robert, Lanner, Fredrik, Altmäe, Signe, Salumets, Andres
Published in Developmental biology (01.03.2019)
Published in Developmental biology (01.03.2019)
Get full text
Journal Article
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss
Essers, Rick, Lebedev, Igor N, Kurg, Ants, Fonova, Elizaveta A, Stevens, Servi J C, Koeck, Rebekka M, von Rango, Ulrike, Brandts, Lloyd, Deligiannis, Spyridon Panagiotis, Nikitina, Tatyana V, Sazhenova, Elena A, Tolmacheva, Ekaterina N, Kashevarova, Anna A, Fedotov, Dmitry A, Demeneva, Viktoria V, Zhigalina, Daria I, Drozdov, Gleb V, Al-Nasiry, Salwan, Macville, Merryn V E, van den Wijngaard, Arthur, Dreesen, Jos, Paulussen, Aimee, Hoischen, Alexander, Brunner, Han G, Salumets, Andres, Zamani Esteki, Masoud
Published in Nature medicine (01.12.2023)
Published in Nature medicine (01.12.2023)
Get full text
Journal Article
P–381 Deciphering the genetic cause of recurrent and sporadic pregnancy loss
Essers, R, Acharya, G, Al-Nasiry, S, Brunner, H, Deligiannis, S P, Fonova, E A, Kurg, A, Lebedev, I N, Macville, M V E, Nikitina, T V, Salumets, A, Sazhenova, E A, Stevens, S J C, Tolmacheva, E N, Zaman. Esteki, M
Published in Human reproduction (Oxford) (06.08.2021)
Published in Human reproduction (Oxford) (06.08.2021)
Get full text
Journal Article
Experimental validation of PRD-like homeobox genes expressed in bovine oocytes and early IVF embryos
Yasar, B, Boskovic, N, Jouhilahti, EM, Vill, P, Burglin, T, Katayama, S, Org, T, Kere, J, Kurg, A
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
Get full text
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
Conference Proceeding
Creating basis for introducing non‐invasive prenatal testing in the Estonian public health setting
Žilina, Olga, Rekker, Kadri, Kaplinski, Lauris, Sauk, Martin, Paluoja, Priit, Teder, Hindrek, Ustav, Eva‐Liina, Tõnisson, Neeme, Reimand, Tiia, Ridnõi, Konstantin, Palta, Priit, Vermeesch, Joris Robert, Krjutškov, Kaarel, Kurg, Ants, Salumets, Andres
Published in Prenatal diagnosis (01.12.2019)
Published in Prenatal diagnosis (01.12.2019)
Get full text
Journal Article
NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies
Sauk, Martin, Žilina, Olga, Kurg, Ants, Ustav, Eva-Liina, Peters, Maire, Paluoja, Priit, Roost, Anne Mari, Teder, Hindrek, Palta, Priit, Brison, Nathalie, Vermeesch, Joris R, Krjutškov, Kaarel, Salumets, Andres, Kaplinski, Lauris
Published in Scientific reports (04.04.2018)
Published in Scientific reports (04.04.2018)
Get full text
Journal Article
The nature and prevalence of chromosomal dynamics in early spontaneous pregnancy loss
Essers, R, Lebedev, I, Kurg, A, Fonova, E, Stevens, S, von Rango, U, Deligiannis, SP, Nikitina, T, Sazhenova, E, Tolmacheva, E, Kashevarova, A, Koeck, R, Al-Nasiry, S, Dreesen, JCMF, Paulussen, ADC, Macville, M, Hoischen, A, Acharya, G, Brunner, H, Salumets, A, Esteki, MZ
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
Get full text
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
Conference Proceeding
Deciphering the genetic cause of recurrent and sporadic pregnancy loss
Essers, R, Acharya, G, Al-Nasiry, S, Brunner, HG, Deligiannis, SP, Fonova, EA, Hoischen, A, Kurg, A, Lebedev, IN, Macville, MVE, Nikitina, TV, Salumets, A, Sazhenova, EA, Stevens, SJC, Tolmacheva, EN, Esteki, MZ
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
Get full text
Published in EUROPEAN JOURNAL OF HUMAN GENETICS (2022)
Conference Proceeding
A first-generation linkage disequilibrium map of human chromosome 22
Cardon, Lon R, Dunham, Ian, Dawson, Elisabeth, Abecasis, Gonçalo R, Bumpstead, Suzannah, Chen, Yuan, Hunt, Sarah, Beare, David M, Pabial, Jagjit, Dibling, Thomas, Tinsley, Emma, Kirby, Susan, Carter, David, Papaspyridonos, Marianna, Livingstone, Simon, Ganske, Rocky, Lõhmussaar, Elin, Zernant, Jana, Tõnisson, Neeme, Remm, Maido, Mägi, Reedik, Puurand, Tarmo, Vilo, Jaak, Kurg, Ants, Rice, Kate, Deloukas, Panos, Mott, Richard, Metspalu, Andres, Bentley, David R
Published in Nature (London) (01.08.2002)
Published in Nature (London) (01.08.2002)
Get full text
Journal Article
Deciphering the genetic cause of recurrent and sporadic pregnancy loss
Essers, R, Acharya, G, Al-Nasiry, S, Brunner, H, Deligiannis, SP, Fonova, EA, Kurg, A, Lebedev, IN, Macville, MVE, Nikitina, TV, Salumets, A, Sazhenova, EA, Stevens, SJC, Tolmacheva, EN, Esteki, MZ
Published in HUMAN REPRODUCTION (2021)
Get full text
Published in HUMAN REPRODUCTION (2021)
Conference Proceeding