Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations
Vandrovcová, J., Štekrová, J., Kebrdlová, V., Kohoutová, M.
Published in Human mutation (01.04.2004)
Published in Human mutation (01.04.2004)
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Journal Article
Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?
COMPTA, Yaroslau, PARKKINEN, Laura, LEERS, Andrew J, REVESZ, Tamas, O'SULLIVAN, Sean S, VANDROVCOVA, Jana, HOLTON, Janice L, COLLINS, Catherine, LASHLEY, Tammaryn, KALLIS, Constantinos, WILLIAMS, David R, DE SILVA, Rohan
Published in Brain (London, England : 1878) (01.05.2011)
Published in Brain (London, England : 1878) (01.05.2011)
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Journal Article
The heritability and genetics of frontotemporal lobar degeneration
Rohrer, J D, Guerreiro, R, Vandrovcova, J, Uphill, J, Reiman, D, Beck, J, Isaacs, A M, Authier, A, Ferrari, R, Fox, N C, Mackenzie, I R A, Warren, J D, de Silva, R, Holton, J, Revesz, T, Hardy, J, Mead, S, Rossor, M N
Published in Neurology (03.11.2009)
Published in Neurology (03.11.2009)
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Journal Article
Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination
Chelban, V., Alsagob, M., Kloth, K., Chirita‐Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al‐Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H., Kaya, N.
Published in European journal of neurology (01.02.2020)
Published in European journal of neurology (01.02.2020)
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Journal Article
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics
Lagerstedt Robinson, Kristina, Liu, Tao, Vandrovcova, Jana, Halvarsson, Britta, Clendenning, Mark, Frebourg, Thierry, Papadopoulos, Nickolas, Kinzler, Kenneth W., Vogelstein, Bert, Peltomäki, Päivi, Kolodner, Richard D., Nilbert, Mef, Lindblom, Annika
Published in JNCI : Journal of the National Cancer Institute (21.02.2007)
Published in JNCI : Journal of the National Cancer Institute (21.02.2007)
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Journal Article
Disentangling the role of the tau gene locus in sporadic tauopathies
Vandrovcova, J, Anaya, F, Kay, V, Lees, A, Hardy, J, de Silva, R
Published in Current Alzheimer research (01.12.2010)
Published in Current Alzheimer research (01.12.2010)
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Journal Article
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement
Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Aleck, Kirk, Banki, Zoltan, Dudas, Joszef, Dumfahrt, Herbert, Haririan, Hady, Hartsfield, James K., Kagen, Charles N., Lindert, Uschi, Meitinger, Thomas, Posch, Wilfried, Pritz, Christian, Ross, David, Schroer, Richard J., Wick, Georg, Wildin, Robert, Wilflingseder, Doris, Byers, Peter H., Zschocke, Johannes
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Journal Article
TGFBR1 variants TGFBR16A and Int7G24A are not associated with an increased familial colorectal cancer risk
Skoglund Lundin, J, Vandrovcova, J, Song, B, Zhou, X, Zelada-Hedman, M, Werelius, B, Houlston, R S, Lindblom, A
Published in British journal of cancer (19.05.2009)
Published in British journal of cancer (19.05.2009)
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Journal Article
Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 9q22.32–31.1
Skoglund, J, Djureinovic, T, Zhou, X-L, Vandrovcova, J, Renkonen, E, Iselius, L, Bisgaard, M L, Peltomäki, P, Lindblom, A
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Journal Article
A genome wide linkage analysis in Swedish families with hereditary non-familial adenomatous polyposis/non-hereditary non-polyposis colorectal cancer
Djureinovic, T, Skoglund, J, Vandrovcova, J, Zhou, X-L, Kalushkova, A, Iselius, L, Lindblom, A
Published in Gut (01.03.2006)
Published in Gut (01.03.2006)
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Journal Article
14O Inherited neuromuscular disorders in India: Outcomes of 1000 probands in the ICGNMD study at AIIMS New Delhi
Venugopalan, Y.V., Macken, W., Wilson, L., Rani, N., Reyaz, A., Ahmad, T., Dalal, A., Vandrovcova, J., Dominik, N., Tallapaka, K., Lemmers, R., Reilly, M., Hanna, M., Bhatia, R., Pitceathly, R., Houlden, H., Thangaraj, K., Straub, V., Srivastava, P.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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Journal Article
253P International Centre for Genomic Medicine in Neuromuscular Diseases: analysis and characterization of the muscular dystrophy cohort from India
Luce, L., Vengalil, S., Nashi, S., Srivastava, K., Manoj, R., Reyaz, A., Chaudhary, N., Ahmad, T., Naveena, M., Vandrovcova, J., Yareeda, S., Bhatia, R., Y, V. Venugopalan, Srivastava, P., Nalini, A., Töpf, A., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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Journal Article
97P Spectrum of limb girdle muscular dystrophies in a cohort of inherited myopathies with limb girdle weakness
Venugopalan, Y.V., Macken, W., Dalal, A., Rani, N., Reyaz, A., Ahmad, T., Tarane, K., Danish, M., Bhatia, R., Wilson, L., Bugiardini, E., Vandrovcova, J., Houlden, H., Pitceathly, R., Thangaraj, K., Topf, A., Straub, V., Hanna, M., Srivastava, P.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
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Journal Article
Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache
O'Connor, Emer, Fourier, Carmen, Ran, Caroline, Sivakumar, Prasanth, Liesecke, Franziska, Southgate, Laura, Harder, Aster V. E., Vijfhuizen, Lisanne S., Yip, Janice, Giffin, Nicola, Silver, Nicholas, Ahmed, Fayyaz, Hostettler, Isabel C., Davies, Brendan, Cader, M. Zameel, Simpson, Benjamin S., Sullivan, Roisin, Efthymiou, Stephanie, Adebimpe, Joycee, Quinn, Olivia, Campbell, Ciaran, Cavalleri, Gianpiero L., Vikelis, Michail, Kelderman, Tim, Paemeleire, Koen, Kilbride, Emer, Grangeon, Lou, Lagrata, Susie, Danno, Daisuke, Trembath, Richard, Wood, Nicholas W., Kockum, Ingrid, Winsvold, Bendik S., Steinberg, Anna, Sjöstrand, Christina, Waldenlind, Elisabet, Vandrovcova, Jana, Houlden, Henry, Matharu, Manjit, Belin, Andrea Carmine
Published in Annals of neurology (01.08.2021)
Published in Annals of neurology (01.08.2021)
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Journal Article
P257 Genotypic spectrum of Duchenne and Becker muscular dystrophy (DMD/BMD) in an Indian, South African and Brazilian cohort
Perry, L., Reyaz, A., Human, R., Lubbe, E., Raga, S., Naidu, K., Tomaselli, P., Vandrovcova, J., Hanna, M., Marques, W., Henning, F., Heckmann, J., Wilmshurst, J., Vishnu, V., Srivastava, M., Yareeda, S., Smuts, I., Sarkozy, A., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
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Journal Article
OD07 - Clinical and Genetic analysis of Egyptian hereditary spastic paraplegia using next generation sequencing
Haridy, N.A., Chelban, V., Vandrovcova, J., Efthymiou, S., Abd El-Hamed, M.A., Hamed, S.A., Houlden, H.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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Journal Article
Genetic investigation of inherited neuropathy in families from Middle East using next generation sequencing
Khan, A.M., Sultan, T., Kriouile, Y., Pipis, M., Vandrovcova, J., Tariq, H., Efthymiou, S., Salpietro, V., Reilly, M.M., Houlden, H.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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Journal Article
PN07 - Genetic investigation of inherited neuropathy in families from Middle East using next generation sequencing
Khan, A.M., Sultan, T., Kriouile, Y., Pipis, M., Vandrovcova, J., Tariq, H., Efthymiou, S., Salpietro, V., Reilly, M.M., Houlden, H.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
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