Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease
Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C., Martin, J.‐J., Butler, I. J., Mancias, P., Papasozomenos, S. Ch, Terespolsky, D., Potocki, L., Brown, C. W., Shy, M., Rita, D. A., Tournev, I., Kremensky, I., Lupski, J. R., Timmerman, V.
Published in Brain (London, England : 1878) (01.03.2003)
Published in Brain (London, England : 1878) (01.03.2003)
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Journal Article
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation
Elizondo, L I, Cho, K S, Zhang, W, Yan, J, Huang, C, Huang, Y, Choi, K, Sloan, E A, Deguchi, K, Lou, S, Baradaran-Heravi, A, Takashima, H, Lücke, T, Quiocho, F A, Boerkoel, C F
Published in Journal of medical genetics (01.01.2009)
Published in Journal of medical genetics (01.01.2009)
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Journal Article
19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression
Lehman, AM, du Souich, C, Chai, D, Eydoux, P, Huang, JL, Fok, AK, Avila, L, Swingland, J, Delaney, AD, McGillivray, B, Goldowitz, D, Argiropoulos, B, Kobor, MS, Boerkoel, CF
Published in Clinical genetics (01.01.2012)
Published in Clinical genetics (01.01.2012)
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Journal Article
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma
Hirano, R, Takashima, H, Umehara, F, Arimura, H, Michizono, K, Okamoto, Y, Nakagawa, M, Boerkoel, C F, Lupski, J R, Osame, M, Arimura, K
Published in Neurology (10.08.2004)
Published in Neurology (10.08.2004)
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Journal Article
A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation
Duan, X., Yang, S., Zhang, H., Wu, J., Zhang, Y., Ji, D., Tie, L., Boerkoel, C.F.
Published in Journal of dental research (01.07.2019)
Published in Journal of dental research (01.07.2019)
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Journal Article
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature
BOERKOEL, C. F, O'NEILL, S, FRÜND, S, GEARY, D. F, IESHIMA, A, ILLIES, F, JOSEPH, M. W, KAITILA, I, LAMA, G, LEHEUP, B, LUDMAN, M. D, MCLEOD, D. R, ANDRE, J. L, MEDEIRA, A, MILFORD, D. V, ORMÄLÄ, T, RENER-PRIMEC, Z, SANTAVA, A, SANTOS, H. G, SCHMIDT, B, SMITH, G. C, SPRANGER, J, ZUPANCIC, N, BENKE, P. J, WEKSBERG, R, BOGDANOVIC, R, BULLA, M, BURGUET, A, COCKFIELD, S, CORDEIRO, I, EHRICH, J. H. H
Published in European journal of pediatrics (01.01.2000)
Published in European journal of pediatrics (01.01.2000)
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Journal Article
A novel 8.5 MB dup(1)(p34.1p34.3) characterized by FISH in a child presenting with congenital heart defect and dysmorphic features
Lennon, P.A., Boerkoel, C.F., Plunkett, K., Soukam, S., Cheung, S.W., Patel, A.
Published in American journal of medical genetics. Part A (01.09.2006)
Published in American journal of medical genetics. Part A (01.09.2006)
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Journal Article
Mutation of TDP1 , encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
Lupski, James R, Takashima, Hiroshi, Boerkoel, Cornelius F, John, Joy, Saifi, Gulam Mustafa, Salih, Mustafa A.M, Armstrong, Dawna, Mao, Yuxin, Quiocho, Florante A, Roa, Benjamin B, Nakagawa, Masanori, Stockton, David W
Published in Nature genetics (01.10.2002)
Published in Nature genetics (01.10.2002)
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Journal Article
Alström syndrome : further evidence for linkage to human chromosome 2p13
COLLIN, G. B, MARSHALL, J. D, BOERKOEL, C. F, LEVIN, A. V, WEKSBERG, R, GREENBERG, J, MICHAUD, J. L, NAGGERT, J. K, NISHINA, P. M
Published in Human genetics (01.11.1999)
Published in Human genetics (01.11.1999)
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Journal Article
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
André, Jean-Luc, Lama, Giuliana, Joseph, Mark, Loirat, Chantal, Illies, Friederike, Bogdanovic, Radovan, Milford, David V, Saraiva, Jorge M, Stein, Anja, Takashima, Hiroshi, Tizard, Jane, Rosenbarker, Lisa, Cockfield, Sandra, Petty, Elizabeth M, John, Joy, Burguet, Antoine, Schmidt, Beate, Smith, Graham C, Lupski, James R, Weksberg, Rosanna, Cordeiro, Isabel, Yan, Jiong, Fründ, Stefan, Stankiewicz, Pawel, McLeod, D. Ross, Stockton, David W, Rodrigo, Francisco, Kaitila, Ilkka, Spranger, Jürgen, Thiele, Hannelore, Boerkoel, Cornelius F
Published in Nature genetics (01.02.2002)
Published in Nature genetics (01.02.2002)
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Lethal neonatal Menkes' disease with severe vasculopathy and fractures
Jankov, RP, Boerkoel, CF, Hellmann, J, Sirkin, WL, Tumer, Z, Horn, N, Feigenbaum, A
Published in Acta Paediatrica (01.12.1998)
Published in Acta Paediatrica (01.12.1998)
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Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse
Bi, Weimin, Yan, Jiong, Stankiewicz, Pawe, Park, Sung-Sup, Walz, Katherina, Boerkoel, Cornelius F, Potocki, Lorraine, Shaffer, Lisa G, Devriendt, Koen, Nowaczyk, Magorzata J M, Inoue, Ken, Lupski, James R
Published in Genome research (01.05.2002)
Published in Genome research (01.05.2002)
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Journal Article
Vaso-occlusion in Schimke-immuno-osseous dysplasia: is the NO pathway involved?
Lücke, T, Tsikas, D, Kanzelmeyer, N K, Boerkoel, C F, Clewing, J M, Vaske, B, Ehrich, J H H, Das, A M
Published in Hormone and metabolic research (01.10.2006)
Published in Hormone and metabolic research (01.10.2006)
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A New Defective Retroviral Vector System Based on the Bryan Strain of Rous Sarcoma Virus
Boerkoel, Cornelius F., Federspiel, Mark J., Salter, Donald W., Payne, William, Crittenden, Lyman B., Kung, Hsing-Jien, Hughes, Stephen H.
Published in Virology (New York, N.Y.) (01.08.1993)
Published in Virology (New York, N.Y.) (01.08.1993)
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Journal Article
Molecular Mechanisms for CMT1A Duplication and HNPP Deletion
BOERKOEL, C. F., INOUE, K., REITER, L. T., WARNER, L. E., LUPSKI, J. R.
Published in Annals of the New York Academy of Sciences (01.10.1999)
Published in Annals of the New York Academy of Sciences (01.10.1999)
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