CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
van der Tuin, Karin, Tops, Carli M J, Adank, Muriel A, Cobben, Jan-Maarten, Hamdy, Neveen A T, Jongmans, Marjolijn C, Menko, Fred H, van Nesselrooij, Bernadette P M, Netea-Maier, Romana T, Oosterwijk, Jan C, Valk, Gerlof D, Wolffenbuttel, Bruce H R, Hes, Frederik J, Morreau, Hans
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
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Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
Ragoussis, Vassilis, Pagnamenta, Alistair T, Haines, Rebecca L, Giacopuzzi, Edoardo, McClatchey, Martin A, Sampson, Julian R, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E, Taylor, Jenny C, Ambrose, J C, Arumugam, P, Baple, E L, Bleda, M, Boardman-Pretty, F, Boissiere, J M, Boustred, C R, Brittain, H, Caulfield, M J, Chan, G C, Craig, C E H, Daugherty, L C, de Burca, A, Devereau, A, Elgar, G, Foulger, R E, Fowler, T, Furió-Tarí, P, Hackett, J M, Halai, D, Hamblin, A, Henderson, S, Holman, J E, Hubbard, T J P, Ibáñez, K, Jackson, R, Jones, L J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lawson, K, Leigh, S E A, Leong, I U S, Lopez, F J, Maleady-Crowe, F, Mason, J, McDonagh, E M, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A C, Odhams, C A, Patch, C, Pereira, M B, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, R H, Siddiq, A, Sieghart, A, Smedley, D, Smith, K R, Smith, S C, Sosinsky, A, Spooner, W, Stevens, H E, Stuckey, A, Sultana, R, Thomas, E R A, Thompson, S R, Tregidgo, C, Tucci, A, Walsh, E, Watters, S A, Welland, M J, Williams, E, Witkowska, K, Wood, S M, Zarowiecki, M
Published in Journal of medical genetics (01.04.2022)
Published in Journal of medical genetics (01.04.2022)
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Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
Bosch, Annet M., Kamsteeg, Erik-Jan, Rodenburg, Richard J., van Deutekom, Arend W., Buis, Dennis R., Engelen, Marc, Cobben, Jan-Maarten
Published in Molecular genetics and metabolism reports (01.12.2018)
Published in Molecular genetics and metabolism reports (01.12.2018)
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Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance
Barth, Peter G., Majoie, Charles B., Caan, Matthan W.A., Weterman, Marian A.J., Kyllerman, Marten, Smit, Leo M.E., Kaplan, Richard A., Haas, Richard H., Baas, Frank, Cobben, Jan-Maarten, Poll-The, Bwee Tien
Published in Brain (London, England : 1878) (01.09.2007)
Published in Brain (London, England : 1878) (01.09.2007)
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When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome
van Veenendaal, Nicole R, Kusters, Cynthia D J, Oostra, Roelof-Jan, Bergman, Jorieke E H, Cobben, Jan-Maarten
Published in Birth defects research. A Clinical and molecular teratology (01.07.2016)
Published in Birth defects research. A Clinical and molecular teratology (01.07.2016)
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Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral Abnormalities
Barge-Schaapveld, Daniela Q.C.M., MD, PhD, Brooks, Alice S., MD, PhD, Lequin, Maarten H., MD, PhD, van Spaendonk, Rosalinda, Vermeulen, R. Jeroen, MD, PhD, Cobben, Jan Maarten, MD, PhD
Published in Pediatric neurology (01.04.2011)
Published in Pediatric neurology (01.04.2011)
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Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD)
Krzyzewska, Izabela M, Lauffer, Peter, Mul, Adri N, van der Laan, Liselot, Yim, Andrew Y F Li, Cobben, Jan Maarten, Niklinski, Jacek, Chomczyk, Monika A, Smigiel, Robert, Mannens, Marcel M A M, Henneman, Peter
Published in International journal of molecular sciences (01.04.2023)
Published in International journal of molecular sciences (01.04.2023)
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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Stray-Pedersen, Asbjørg, Cobben, Jan-Maarten, Prescott, Trine E., Lee, Sora, Cang, Chunlei, Aranda, Kimberly, Ahmed, Sohnee, Alders, Marielle, Gerstner, Thorsten, Aslaksen, Kathinka, Tétreault, Martine, Qin, Wen, Hartley, Taila, Jhangiani, Shalini N., Muzny, Donna M., Tarailo-Graovac, Maja, van Karnebeek, Clara D.M., Lupski, James R., Ren, Dejian, Yoon, Grace
Published in American journal of human genetics (07.01.2016)
Published in American journal of human genetics (07.01.2016)
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Opposite effects on facial morphology due to gene dosage sensitivity
Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, Teresa, Hennekam, Raoul
Published in Human genetics (01.09.2014)
Published in Human genetics (01.09.2014)
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Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid
Piepers, Sanne, Cobben, Jan-Maarten, Sodaar, Peter, Jansen, Marc D, Wadman, Renske I, Meester-Delver, Ann, Poll-The, Bwee Tien, Lemmink, Henny H, Wokke, John H J, van der Pol, W-Ludo, van den Berg, Leonard H
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2011)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2011)
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Morphologic abnormalities in 2-year-old children born after in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic screening: follow-up of a randomized controlled trial
Beukers, Fenny, M.Sc, van der Heide, Maaike, M.D, Middelburg, Karin J., M.D., Ph.D, Cobben, Jan Maarten, M.D., Ph.D, Mastenbroek, Sebastiaan, Ph.D, Breur, Rinske, M.D, van der Lee, Johanna H., M.D., Ph.D, Hadders-Algra, Mijna, M.D., Ph.D, Bos, Arend F., M.D., Ph.D, Kok, Joke H., M.D., Ph.D
Published in Fertility and sterility (01.02.2013)
Published in Fertility and sterility (01.02.2013)
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Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands
Stalpers, Xenia L, Verrips, Aad, Poll-The, Bwee Tien, Cobben, Jan-Maarten, Snoeck, Irina N, de Coo, Irenaeus F.M, Brooks, Alice, Bulk, Saskia, Gooskens, Rob, Fock, Annemarie, Verschuuren-Bemelmans, Corien, Sinke, Richard J, de Visser, Marianne, Lemmink, Henny H
Published in Neuromuscular disorders : NMD (01.06.2013)
Published in Neuromuscular disorders : NMD (01.06.2013)
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Dysmorphic features in 2-year-old IVF/ICSI offspring
Seggers, Jorien, Haadsma, Maaike L, Bos, Arend F, Heineman, Maas Jan, Keating, Paul, Middelburg, Karin J, van Hoften, Jacorina C, Veenstra-Knol, Hermine E, Kok, Joke H, Cobben, Jan Maarten, Hadders-Algra, Mijna
Published in Early human development (01.10.2012)
Published in Early human development (01.10.2012)
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Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
Menke, Leonie A., Poll‐The, Bwee Tien, Clur, Sally‐Ann, Bilardo, Catia M., van der Wal, Allard C., Lemmink, Henny H., Cobben, Jan Maarten
Published in American journal of medical genetics. Part A (15.03.2008)
Published in American journal of medical genetics. Part A (15.03.2008)
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Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
HASTINGS, Rob, COBBEN, Jan-Maarten, MCGOWAN, Ruth, METCALFE, Kay, MURDOCH-DAVIS, Catherine, RAY, Mary, RIO, Marlene, SMITHSON, Sarah, TOLMIE, John, TURNPENNY, Peter, VAN BON, Bregje, WIECZOREK, Dagmar, GILLESSEN-KAESBACH, Gabriele, NEWBURY-ECOB, Ruth, GOODSHIP, Judith, HOVE, Hanne, KJAERGAARD, Susanne, KEMP, Helena, KINGSTON, Helen, LUNT, Peter, MANSOUR, Sahar
Published in European journal of human genetics : EJHG (01.05.2011)
Published in European journal of human genetics : EJHG (01.05.2011)
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DNA analysis of AHI1 , NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands
Kroes, Hester Y, van Zon, Patrick H.A, van de Putte, Dietje Fransen, Nelen, Marcel R, Nievelstein, Rutger-Jan, Wittebol-Post, Dienke, van Nieuwenhuizen, Onno, Mancini, Grazia M.S, van der Knaap, Marjo S, Kwee, Mei Lan, Maas, Saskia M, Cobben, Jan Maarten, De Nef, Jacques E.E, Lindhout, Dick, Sinke, Richard J
Published in European journal of medical genetics (01.01.2008)
Published in European journal of medical genetics (01.01.2008)
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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
Mattioli, Francesca, Schaefer, Elise, Magee, Alex, Mark, Paul, Mancini, Grazia M., Dieterich, Klaus, Von Allmen, Gretchen, Alders, Marielle, Coutton, Charles, van Slegtenhorst, Marjon, Vieville, Gaëlle, Engelen, Mark, Cobben, Jan Maarten, Juusola, Jane, Pujol, Aurora, Mandel, Jean-Louis, Piton, Amélie
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Reijnders, Margot R F, Janowski, Robert, Alvi, Mohsan, Self, Jay E, van Essen, Ton J, Vreeburg, Maaike, Rouhl, Rob P W, Stevens, Servi J C, Stegmann, Alexander P A, Schieving, Jolanda, Pfundt, Rolph, van Dijk, Katinke, Smeets, Eric, Stumpel, Connie T R M, Bok, Levinus A, Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E, Douzgou, Sofia, Cooper, Nicola S, Tan, Ene-Choo, Foo, Roger, Lai, Angeline H M, Rankin, Julia, Green, Andrew, Lönnqvist, Tuula, Isohanni, Pirjo, Williams, Shelley, Ruhoy, Ilene, Carvalho, Karen S, Dowling, James J, Lev, Dorit L, Sterbova, Katalin, Lassuthova, Petra, Neupauerová, Jana, Waugh, Jeff L, Keros, Sotirios, Clayton-Smith, Jill, Smithson, Sarah F, Brunner, Han G, van Hoeckel, Ceciel, Anderson, Mel, Clowes, Virginia E, Siu, Victoria Mok, DDD study, The, Selber, Paulo, Leventer, Richard J, Nellaker, Christoffer, Niessing, Dierk, Hunt, David, Baralle, Diana
Published in Journal of medical genetics (01.02.2018)
Published in Journal of medical genetics (01.02.2018)
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