Novel indel Mutation in the GDF5 Gene Is Associated with Brachydactyly Type C in a Four-Generation Turkish Family

door Uyguner, Z.O., Kocaoğlu, M., Toksoy, G., Basaran, S., Kayserili, H.
Gepubliceerd in 2014

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation

door Nuytinck, L., Tukel, T., Kayserili, H., Apak, M. Y., De Paepe, A.
Gepubliceerd in 2000

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)

door Kayserili, H., Cox, T., Cox, L., Basaran, S., Kilic, G., Ballabio, A., Yuksel-Apak, M.
Gepubliceerd in 2001

Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements

door Satkin, NB, Karaman, B, Ergin, S, Kayserili, H, Kalelioglu, IH, Has, R, Yuksel, A, Basaran, S
Gepubliceerd in Balkan J Med Genet (2021)

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

door Matthijs, G, Schollen, E, Legius, E, Devriendt, K, Goemans, N, Kayserili, H, Apäk, M Y, Cassiman, J J
Gepubliceerd in 1996

Studies on the pathogenesis of Costello syndrome

door Mancini, G, van Diggelen, O P, Kleijer, W, Di, R, Farina, V, Yuksel-Apak, M, Kayserili, H, Halley, D
Gepubliceerd in 2003

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

door Tukel, T, Uzumcu, A, Gezer, A, Kayserili, H, Yuksel-Apak, M, Uyguner, O, Gultekin, S, Hennies, H, Nurnberg, P, Desnick, R, Wollnik, B
Gepubliceerd in 2005

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

door Furuichi, T, Kayserili, H, Hiraoka, S, Nishimura, G, Ohashi, H, Alanay, Y, Lerena, J C, Aslanger, A D, Koseki, H, Cohn, D H, Superti-Furga, A, Unger, S, Ikegawa, S
Gepubliceerd in 2009

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos‐like syndrome

door Uzumcu, A, Norgett, E E, Dindar, A, Uyguner, O, Nisli, K, Kayserili, H, Sahin, S E, Dupont, E, Severs, N J, Leigh, I M, Yuksel‐Apak, M, Kelsell, D P, Wollnik, B
Gepubliceerd in 2006

Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families

door Hanna, R.M., Marsh, S.E., Swistun, D., Al-Gazali, L., Zaki, M.S., Abdel-Salam, G.M., Al-Tawari, A., Bastaki, L., Kayserili, H., Rajab, A., Boglárka, B., Dietrich, R.B., Dobyns, W.B., Truwit, C.L., Sattar, S., Chuang, N.A., Sherr, E.H., Gleeson, J.G.
Gepubliceerd in 2011

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

door Dinckan, N., Du, R., Petty, L.E., Coban-Akdemir, Z., Jhangiani, S.N., Paine, I., Baugh, E.H., Erdem, A.P., Kayserili, H., Doddapaneni, H., Hu, J., Muzny, D.M., Boerwinkle, E., Gibbs, R.A., Lupski, J.R., Uyguner, Z.O., Below, J.E., Letra, A.
Gepubliceerd in J Dent Res (2017)

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

door Kelmemi, W., Teeuw, M. E., Bochdanovits, Z., Ouburg, S., Jonker, M. A., Alkuraya, F., Hashem, M., Kayserili, H., van Haeringen, A., Sheridan, E., Masri, A., Cobben, J. M., Rizzu, P., Kostense, P. J., Dommering, C. J., Henneman, L., Bouhamed-Chaabouni, H., Heutink, P., ten Kate, L. P., Cornel, M. C.
Gepubliceerd in BMC Med Genet (2015)

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

door Alders, M., Mendola, A., Adès, L., Al Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S.A., Jagadeesh, S., Kayserili, H., Keng, W.T., Lev, D., Prada, C.E., Sampson, J.R., Schmidtke, J., Shashi, V., van Bever, Y., Van der Aa, N., Verhagen, J.M., Verheij, J.B., Vikkula, M., Hennekam, R.C.
Gepubliceerd in 2013

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

door Elouej, Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara
Gepubliceerd in Nat Commun (2020)

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

door Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara
Gepubliceerd in Nat Commun (2020)

Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

door 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.
Gepubliceerd in 2001