Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome

Por Micheal, Shazia, Khan, Muhammad Imran, Akhtar, Farah, Weiss, Marjan M., Islam, Farah, Ali, Mehmood, Qamar, Raheel, Maugeri, Alessandra, den Hollander, Anneke I.
Publicado em 2012

Genomic Alterations in Primary Gastric Adenocarcinomas Correlate with Clinicopathological Characteristics and Survival

Por Weiss, Marjan M., Kuipers, Ernst J., Postma, Cindy, Snijders, Antoine M., Pinkel, Daniel, Meuwissen, Stefan G. M., Albertson, Donna, Meijer, Gerrit A.
Publicado no Cell Oncol (2004)

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm

Por van de Luijtgaarden, Koen M., Heijsman, Daphne, Maugeri, Alessandra, Weiss, Marjan M., Verhagen, Hence J. M., IJpma, Arne, Brüggenwirth, Hennie T., Majoor-Krakauer, Danielle
Publicado no Hum Genet (2015)

Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management

Por Hermsen, Mario A., Sevilla, María A., Llorente, José Luis, Weiss, Marjan M., Grimbergen, Anneliese, Allonca, Eva, Garcia-Inclán, Cristina, Balbín, Milagros, Suárez, Carlos
Publicado no Cell Oncol (2010)

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

Por Ozantürk, Ayşegül, Davis, Erica E., Sabo, Aniko, Weiss, Marjan M., Muzny, Donna, Dugan-Perez, Shannon, Sistermans, Erik A., Gibbs, Richard A., Özgül, Köksal R., Yalnızoglu, Dilek, Serdaroglu, Esra, Dursun, Ali, Katsanis, Nicholas
Publicado no Cold Spring Harb Mol Case Stud (2016)

A novel CCM2 variant in a family with non‐progressive cognitive complaints and cerebral microbleeds

Por Cohn‐Hokke, Petra E., Holstege, Henne, Weiss, Marjan M., van der Flier, Wiesje M., Barkhof, Frederik, Sistermans, Erik A., Pijnenburg, Yolande A. L., van Swieten, John C., Meijers‐Heijboer, Hanne, Scheltens, Philip
Publicado no Am J Med Genet B Neuropsychiatr Genet (2016)

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Por Bayley, Jean-Pierre, van Minderhout, Ivonne, Weiss, Marjan M, Jansen, Jeroen C, Oomen, Peter HN, Menko, Fred H, Pasini, Barbara, Ferrando, Barbara, Wong, Nora, Alpert, Lesley C, Williams, Rosie, Blair, Edward, Devilee, Peter, Taschner, Peter EM
Publicado em 2006

The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients

Por Bayley, Jean-Pierre, Grimbergen, Anneliese EM, van Bunderen, Patrick A, van der Wielen, Michiel, Kunst, Henricus P, Lenders, Jacques W, Jansen, Jeroen C, Dullaart, Robin PF, Devilee, Peter, Corssmit, Eleonora P, Vriends, Annette H, Losekoot, Monique, Weiss, Marjan M
Publicado em 2009

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

Por Hes, Frederik J, Weiss, Marjan M, Woortman, Sanne A, de Miranda, Noel F, van Bunderen, Patrick A, Bonsing, Bert A, Stokkel, Marcel PM, Morreau, Hans, Romijn, Johannes A, Jansen, Jeroen C, Vriends, Annette HJT, Bayley, Jean-Pierre L, Corssmit, Eleonora PM
Publicado em 2010

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Por McKie, Arthur B, Alsaedi, Atif, Vogt, Julie, Stuurman, Kyra E, Weiss, Marjan M, Shakeel, Hassan, Tee, Louise, Morgan, Neil V, Nikkels, Peter G J, van Haaften, Gijs, Park, Soo-Mi, van der Smagt, Jasper J, Bugiani, Marianna, Maher, Eamonn R
Publicado no Acta Neuropathol Commun (2014)

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

Por Tan-Sindhunata, M Brigita, Mathijssen, Inge B, Smit, Margriet, Baas, Frank, de Vries, Johanna I, van der Voorn, J Patrick, Kluijt, Irma, Hagen, Marleen A, Blom, Eveline W, Sistermans, Erik, Meijers-Heijboer, Hanne, Waisfisz, Quinten, Weiss, Marjan M, Groffen, Alexander J
Publicado no Eur J Hum Genet (2015)

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer’s Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity

Por Louwersheimer, Eva, Cohn-Hokke, Petra E., Pijnenburg, Yolande A.L., Weiss, Marjan M., Sistermans, Erik A., Rozemuller, Annemieke J., Hulsman, Marc, van Swieten, John C., van Duijn, Cock M., Barkhof, Frederik, Koene, Teddy, Scheltens, Philip, Van der Flier, Wiesje M., Holstege, Henne
Publicado no J Alzheimers Dis (2017)

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

Por Harakalova, Magdalena, van der Smagt, Jasper, de Kovel, Carolien G F, van't Slot, Ruben, Poot, Martin, Nijman, Isaac J, Medic, Jelena, Joziasse, Irene, Deckers, Jaap, Roos-Hesselink, Jolien W, Wessels, Marja W, Baars, Hubert F, Weiss, Marjan M, Pals, Gerard, Golmard, Lisa, Jeunemaitre, Xavier, Lindhout, Dick, Cuppen, Edwin, Baas, Annette F
Publicado em 2013

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

Por Oepkes, Dick, Page‐Christiaens, G. C. (Lieve), Bax, Caroline J., Bekker, Mireille N., Bilardo, Catia M., Boon, Elles M. J., Schuring‐Blom, G. Heleen, Coumans, Audrey B. C., Faas, Brigitte H., Galjaard, Robert‐Jan H., Go, Attie T., Henneman, Lidewij, Macville, Merryn V. E., Pajkrt, Eva, Suijkerbuijk, Ron F., Huijsdens‐van Amsterdam, Karin, Van Opstal, Diane, Verweij, E. J. (Joanne), Weiss, Marjan M., Sistermans, Erik A.
Publicado no Prenat Diagn (2016)

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Por Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.
Publicado no Am J Hum Genet (2016)

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

Por Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
Publicado no Genet Med (2016)

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Por Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke, Nieuwint, Aggie, Weiss, Marjan M., Rizzu, Patrizia, Verwer, Lucilla E.N.I., van Spaendonk, Rosalina M.L., Shen, Yiping, Wu, Bai-lin, Yu, Tingting, Yu, Yongguo, Chiang, Colby, Gusella, James F., Lindgren, Amelia M., Morton, Cynthia C., van Binsbergen, Ellen, Bulk, Saskia, van Rossem, Els, Vanakker, Olivier, Armstrong, Ruth, Park, Soo-Mi, Greenhalgh, Lynn, Maye, Una, Neill, Nicholas J., Abbott, Kristin M., Sell, Susan, Ladda, Roger, Farber, Darren M., Bader, Patricia I., Cushing, Tom, Drautz, Joanne M., Konczal, Laura, Nash, Patricia, de Los Reyes, Emily, Carter, Melissa T., Hopkins, Elizabeth, Marshall, Christian R., Osborne, Lucy R., Gripp, Karen W., Thrush, Devon Lamb, Hashimoto, Sayaka, Gastier-Foster, Julie M., Astbury, Caroline, Ylstra, Bauke, Meijers-Heijboer, Hanne, Posthuma, Danielle, Menten, Björn, Mortier, Geert, Scherer, Stephen W., Eichler, Evan E., Girirajan, Santhosh, Katsanis, Nicholas, Groffen, Alexander J., Sistermans, Erik A.
Publicado em 2013