Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
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
Published in Journal of medical genetics (01.11.2008)
Published in Journal of medical genetics (01.11.2008)
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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
Maas, N M C, Van Buggenhout, G, Hannes, F, Thienpont, B, Sanlaville, D, Kok, K, Midro, A, Andrieux, J, Anderlid, B-M, Schoumans, J, Hordijk, R, Devriendt, K, Fryns, J-P, Vermeesch, J R
Published in Journal of medical genetics (01.02.2008)
Published in Journal of medical genetics (01.02.2008)
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Journal Article
Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III
Lüdecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Groß, S., von Holtum, D., Hirche, H., Abramowicz, M.J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H.J., Greiwe, M., Hamm, H., Hennekam, R.C.M., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Ørstavik, K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B.
Published in American journal of human genetics (01.01.2001)
Published in American journal of human genetics (01.01.2001)
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Conference Proceeding
Reciprocal chromosome translocations involving short arm of chromosome 9 as a risk factor of unfavorable pregnancy outcomes after meiotic malsegregation 2:2
Panasiuk, B, Danik, J, Lurie, I, Stasiewicz-Jarocka, B, Leśniewicz, R, Sawicka, A, Kałużewski, B, Midro, A
Published in Advances in medical sciences (01.12.2009)
Published in Advances in medical sciences (01.12.2009)
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Journal Article
Rett syndrome in females with CTS hot spot deletions: A disorder profile
Smeets, E., Terhal, P., Casaer, P., Peters, A., Midro, A., Schollen, E., van Roozendaal, K., Moog, U., Matthijs, G., Herbergs, J., Smeets, H., Curfs, L., Schrander-Stumpel, C., Fryns, J.P.
Published in American journal of medical genetics. Part A (15.01.2005)
Published in American journal of medical genetics. Part A (15.01.2005)
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Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16
Stasiewicz-Jarocka, B, Haus, O, Assche, E Van, Kostyk, E, Constantinou, M, Rybałko, A, Krzykwa, B, Marcinkowska, A, Barisič, I, Kučinskas, V, Katużewski, B, Schwanitz, G, Midro, AT
Published in Clinical genetics (01.09.2004)
Published in Clinical genetics (01.09.2004)
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The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random
Maas, N M C, Van Vooren, S, Hannes, F, Van Buggenhout, G, Mysliwiec, M, Moreau, Y, Fagan, K, Midro, A, Engiz, O, Balci, S, Parker, M J, Sznajer, Y, Devriendt, K, Fryns, J P, Vermeesch, J R
Published in Genetic counseling (01.01.2007)
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Published in Genetic counseling (01.01.2007)
Journal Article
Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome
Midro, Alina T., Panasiuk, Barbara, Tümer, Zeynep, Stankiewicz, Paweł, Silahtaroglu, Asli, Lupski, James R., Zemanova, Zuzana, Stasiewicz‐Jarocka, Beata, Hubert, Ewa, Tarasów, Eugeniusz, Famulski, Waldemar, Zadrożna‐Tołwińska, Barbara, Wasilewska, Ewa, Kirchhoff, Marie, Kalscheuer, Vera, Michalova, Kyra, Tommerup, Niels
Published in American journal of medical genetics. Part A (15.01.2004)
Published in American journal of medical genetics. Part A (15.01.2004)
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Journal Article
Construction of a Detailed Physical and Transcript Map of the Candidate Region for Russell–Silver Syndrome on Chromosome 17q23–q24
Dörr, Sylvia, Midro, Alina T., Färber, Claudia, Giannakudis, Joannis, Hansmann, Ingo
Published in Genomics (San Diego, Calif.) (15.01.2001)
Published in Genomics (San Diego, Calif.) (15.01.2001)
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