المؤلفون: Hitzert, M. M., van der Crabben, S. N., Baldewsingh, G., van Amstel, H. K. Ploos, van den Wijngaard, A., van Ravenswaaij-Arts, C. M. A., Zijlmans, C. W. R.

المصدر: Hitzert , M M , van der Crabben , S N , Baldewsingh , G , van Amstel , H K P , van den Wijngaard , A , van Ravenswaaij-Arts , C M A & Zijlmans , C W R 2019 , ' Mandibuloacral dysplasia type B (MADB) : a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1) , clinical diagnostic criteria and management guidelines ' , Orphanet Journal of Rare Diseases , vol. 14 , no. 1 , 294 . https://doi.org/10.1186/s13023-019-1269-0

مصطلحات موضوعية: Mandibuloacral dysplasia with type B lipodystrophy, ZMPSTE24 gene, Suriname, Diagnostic criteria, LMNA MUTATION, METALLOPROTEINASE, LIPODYSTROPHY, PROGERIA

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/0d53ef10-efba-43ed-830e-0ed963afb571
https://doi.org/10.1186/s13023-019-1269-0

المؤلفون: Powis, Z., Petrik, I., Cohen, J. S., Escolar, D., Burton, J., van Ravenswaaij-Arts, C. M. A., Sival, D. A., Stegmann, A. P. A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S., Shinde, D. N.

المصدر: Powis , Z , Petrik , I , Cohen , J S , Escolar , D , Burton , J , van Ravenswaaij-Arts , C M A , Sival , D A , Stegmann , A P A , Kleefstra , T , Pfundt , R , Chikarmane , R , Begtrup , A , Huether , R , Tang , S & Shinde , D N 2018 , ' De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms ' , Clinical Genetics , vol. 93 , no. 5 , ....

مصطلحات موضوعية: autism, clinical diagnostics, intellectual disability, KLF7, Kruppel-like transcription factors, whole-exome sequencing, zinc finger DNA-binding protein, TRANSCRIPTION FACTOR KLF7, 2Q33.3-Q34 INTERSTITIAL DELETION, FEATURES, EXPRESSION, MUTATIONS, PROTEINS, REGIONS, SMART, MODEL

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/526202d8-80b6-4b28-9e61-43628606a56e
https://doi.org/10.1111/cge.13198
http://onlinelibrary.wiley.com/doi/10.1111/cge.13198/pdf

المؤلفون: de Geus, C. M., Bergman, J. E. H., van Ravenswaaij-Arts, C. M. A., Meiners, L. C.

المصدر: de Geus , C M , Bergman , J E H , van Ravenswaaij-Arts , C M A & Meiners , L C 2018 , ' Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development : A Case-Control Study ' , American Journal of Neuroradiology , vol. 39 , no. 10 , pp. 1938-1942 . https://doi.org/10.3174/ajnr.A5810

مصطلحات موضوعية: DIAGNOSTIC-CRITERIA, MULTIPLE ANOMALIES, CHOANAL ATRESIA, HEART-DISEASE, CHD7 GENE, ASSOCIATION, VARIANTS, MUTATION, PROPOSAL, UPDATE

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/526be362-c463-427f-9db8-358fe49da0f3

الاتاحة: https://hdl.handle.net/11370/526be362-c463-427f-9db8-358fe49da0f3
https://research.rug.nl/en/publications/526be362-c463-427f-9db8-358fe49da0f3
https://doi.org/10.3174/ajnr.A5810
https://pure.rug.nl/ws/files/65539489/ajnr.A5810.full.pdf

المؤلفون: Gillessen-Kaesbach, G., Albrecht, B., Eggermann, T., Elbracht, M., Mitter, D., Morlot, S., van Ravenswaaij-Arts, C. M. A., Schulz, S., Strobl-Wildemann, G., Buiting, K., Beygo, J.

المصدر: Gillessen-Kaesbach , G , Albrecht , B , Eggermann , T , Elbracht , M , Mitter , D , Morlot , S , van Ravenswaaij-Arts , C M A , Schulz , S , Strobl-Wildemann , G , Buiting , K & Beygo , J 2018 , ' Molecular and clinical studies in 8 patients with Temple syndrome ' , Clinical Genetics , vol. 93 , no. 6 , pp. 1179-1188 . https://doi.org/10.1111/cge.13244

مصطلحات موضوعية: chromosome 14, genomic imprinting, imprinting defect, imprinting disorder, methylation, mosaicism, Temple syndrome, MATERNAL UNIPARENTAL DISOMY, KAGAMI-OGATA SYNDROME, IMPRINTING DISORDERS, PATERNAL ISODISOMY, SILVER-RUSSELL, INSIGHTS, REGION, 14Q32

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/01a8d2a2-8cc4-42bc-a35c-18bb281ae9a3
https://research.rug.nl/en/publications/01a8d2a2-8cc4-42bc-a35c-18bb281ae9a3
https://doi.org/10.1111/cge.13244
https://pure.rug.nl/ws/files/59393940/Gillessen_Kaesbach_et_al_2018_Clinical_Genetics.pdf

المؤلفون: Donker, R. B., Vloeberghs, V., Groen, H., Tournaye, H., van Ravenswaaij-Arts, C. M. A., Land, J. A.

المصدر: Donker , R B , Vloeberghs , V , Groen , H , Tournaye , H , van Ravenswaaij-Arts , C M A & Land , J A 2017 , ' Chromosomal abnormalities in 1663 infertile men with azoospermia : The clinical consequences ' , Human Reproduction , vol. 32 , no. 12 , pp. 2574-2580 . https://doi.org/10.1093/humrep/dex307

مصطلحات موضوعية: azoospermia, chromosomal abnormalities, miscarriage, congenital abnormality, sperm retrieval, NONOBSTRUCTIVE AZOOSPERMIA, EUROPEAN ASSOCIATION, KLINEFELTER SYNDROME, UROLOGY GUIDELINES, PREDICTION MODEL, OUTCOMES, ICSI, TRANSLOCATIONS

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/b7ce8591-6fff-42c7-9ea3-c6671b904bc6

الاتاحة: https://hdl.handle.net/11370/b7ce8591-6fff-42c7-9ea3-c6671b904bc6
https://research.rug.nl/en/publications/b7ce8591-6fff-42c7-9ea3-c6671b904bc6
https://doi.org/10.1093/humrep/dex307
https://pure.rug.nl/ws/files/51691045/dex307.pdf

المؤلفون: Rodriguez-Palmero A., Boerrigter M. M., Gomez-Andres D., Aldinger K. A., Marcos-Alcalde I., Popp B., Everman D. B., Lovgren A. K., Arpin S., Bahrambeigi V., Beunders G., Bisgaard A. -M., Bjerregaard V. A., Bruel A. -L., Challman T. D., Cogne B., Coubes C., de Man S. A., Denomme-Pichon A. -S., Dye T. J., Elmslie F., Feuk L., Garcia-Minaur S., Gertler T., Giorgio E., Gruchy N., Haack T. B., Haldeman-Englert C. R., Haukanes B. I., Hoyer J., Hurst A. C. E., Isidor B., Soller M. J., Kushary S., Kvarnung M., Landau Y. E., Leppig K. A., Lindstrand A., Kleinendorst L., MacKenzie A., Mandrile G., Mendelsohn B. A., Moghadasi S., Morton J. E., Moutton S., Muller A. J., O'Leary M., Pacio-Miguez M., Palomares-Bralo M., Parikh S., Pfundt R., Pode-Shakked B., Rauch A., Repnikova E., Revah-Politi A., Ross M. J., Ruivenkamp C. A. L., Sarrazin E., Savatt J. M., Schluter A., Schonewolf-Greulich B., Shad Z., Shaw-Smith C., Shieh J. T., Shohat M., Spranger S., Thiese H., Mau-Them F. T., van Bon B., van de Burgt I., van de Laar I. M. B. H., van Drie E., van Haelst M. M., van Ravenswaaij-Arts C. M., Verdura E., Vitobello A., Waldmuller S., Whiting S., Zweier C., Prada C. E., de Vries B. B. A., Dobyns W. B., Reiter S. F., Gomez-Puertas P., Pujol A., Tumer Z.

المساهمون: Rodriguez-Palmero, A., Boerrigter, M. M., Gomez-Andres, D., Aldinger, K. A., Marcos-Alcalde, I., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A. -M., Bjerregaard, V. A., Bruel, A. -L., Challman, T. D., Cogne, B., Coubes, C., de Man, S. A., Denomme-Pichon, A. -S., Dye, T. J., Elmslie, F., Feuk, L., Garcia-Minaur, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., Mackenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Muller, A. J., O'Leary, M., Pacio-Miguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schluter, A., Schonewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., van Bon, B., van de Burgt, I., van de Laar, I. M. B. H., van Drie, E., van Haelst, M. M., van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmuller, S., Whiting, S., Zweier, C., Prada, C. E., de Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gomez-Puertas, P., Pujol, A., Tumer, Z.

مصطلحات موضوعية: Brain, Disks Large Homolog 4 Protein, Human, Phenotype, Autism Spectrum Disorder, Brain Disease, Intellectual Disability, Neurodevelopmental Disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/33597769; info:eu-repo/semantics/altIdentifier/wos/WOS:000618913400001; volume:23; issue:5; firstpage:888; lastpage:899; numberofpages:12; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11571/1450608; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101043691

الاتاحة: https://hdl.handle.net/11571/1450608
https://doi.org/10.1038/s41436-020-01075-9

المؤلفون: Lambeck, A. J. A., van Ravenswaaij-Arts, C. M. A., Schölvinck, E. H.

المصدر: Genetic Syndromes ; page 1-7 ; ISBN 9783319668161 9783319668161

الاتاحة: http://dx.doi.org/10.1007/978-3-319-66816-1_26-2
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_26-2

المؤلفون: Vesseur, A. C., Verbist, B. M., Westerlaan, H. E., Kloostra, F. J. J., Admiraal, R. J. C., van Ravenswaaij-Arts, C. M. A., Free, R. H., Mylanus, E. A. M.

المصدر: Vesseur , A C , Verbist , B M , Westerlaan , H E , Kloostra , F J J , Admiraal , R J C , van Ravenswaaij-Arts , C M A , Free , R H & Mylanus , E A M 2016 , ' CT findings of the temporal bone in CHARGE syndrome : aspects of importance in cochlear implant surgery ' , European Archives of Oto-Rhino-Laryngology , vol. 273 , no. 12 , pp. 4225-4240 . https://doi.org/10.1007/s00405-016-4141-z

مصطلحات موضوعية: CHARGE syndrome, Cochlear implant, Anatomy, Genetics, Temporal bone, CHD7 GENE, PETROSQUAMOSAL SINUS, SEMICIRCULAR CANALS, INNER-EAR, ASSOCIATION, CHILDREN, SPECTRUM, MALFORMATIONS, MUTATIONS, ANOMALIES

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/c1787809-d1a4-4400-ba25-b2a104a00ef2
https://research.rug.nl/en/publications/c1787809-d1a4-4400-ba25-b2a104a00ef2
https://doi.org/10.1007/s00405-016-4141-z
https://pure.rug.nl/ws/files/38994992/art_3A10.1007_2Fs00405_016_4141_z.pdf

المؤلفون: Egger, J. I. M., Zwanenburg, R. J., van Ravenswaaij‐Arts, C. M. A., Kleefstra, T., Verhoeven, W. M. A.

المصدر: Genes, Brain and Behavior ; volume 15, issue 4, page 395-404 ; ISSN 1601-1848 1601-183X

الاتاحة: http://dx.doi.org/10.1111/gbb.12285
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fgbb.12285
https://onlinelibrary.wiley.com/doi/pdf/10.1111/gbb.12285

المؤلفون: Lambeck, A. J. A., van Ravenswaaij-Arts, C. M. A., Schölvinck, E. H.

المصدر: Genetic Syndromes ; page 1-7 ; ISBN 9783319668161 9783319668161

الاتاحة: http://dx.doi.org/10.1007/978-3-319-66816-1_26-1
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_26-1

المؤلفون: Lévy, J., Schell, B., Nasser, H., Rachid, M., Ruaud, L., Couque, N., Callier, P., Faivre, L., Marle, N., Engwerda, A., Van Ravenswaaij-Arts, C. M. A., Plutino, M., Karmous-Benailly, H., Benech, C., Redon, S., Boute, Odile, Boudry Labis, E., Rama, M., Kuentz, P., Assoumani, J., Maldergem, L. V., Dupont, C., Verloes, A., Tabet, A. C.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

مصطلحات موضوعية: 6q16, 1 microdeletion, EPHA7, intellectual disability, microcephaly, neurodevelopmental disorder, speech and language development

Relation: Clin Genet; http://hdl.handle.net/20.500.12210/115589

الاتاحة: https://hdl.handle.net/20.500.12210/115589

المؤلفون: Van Echten-Arends, J., Coonen, E., Reuters, B., Suijkerbuijk, R. F., Dul, E. C., Land, J. A., van Ravenswaaij-Arts, C. M. A.

المصدر: Van Echten-Arends , J , Coonen , E , Reuters , B , Suijkerbuijk , R F , Dul , E C , Land , J A & van Ravenswaaij-Arts , C M A 2013 , ' Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis ' , Human Reproduction , vol. 28 , no. 11 , pp. 3141-3145 . https://doi.org/10.1093/humrep/det362

مصطلحات موضوعية: PGD, misdiagnosis, reciprocal translocation, X-autosome translocation, segregation types

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/3b6c2262-6d0e-4f9b-aed7-5dc308b4c5bd
https://doi.org/10.1093/humrep/det362

المؤلفون: Corsten-Janssen, N, Saitta, S C, Hoefsloot, L H, McDonald-McGinn, D M, Driscoll, D A, Derks, R, Dickinson, K A, Kerstjens-Frederikse, W S, Emanuel, B S, Zackai, E H, van Ravenswaaij-Arts, C M A

المصدر: Corsten-Janssen , N , Saitta , S C , Hoefsloot , L H , McDonald-McGinn , D M , Driscoll , D A , Derks , R , Dickinson , K A , Kerstjens-Frederikse , W S , Emanuel , B S , Zackai , E H & van Ravenswaaij-Arts , C M A 2013 , ' More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated ' , Molecular Syndromology , vol. 4 , no. 5 , pp. 235-245 . https://doi.org/10.1159/000351127

مصطلحات موضوعية: Journal Article

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/80568b68-43fb-41a1-81da-a510f7f451e1

الاتاحة: https://hdl.handle.net/11370/80568b68-43fb-41a1-81da-a510f7f451e1
https://research.rug.nl/en/publications/80568b68-43fb-41a1-81da-a510f7f451e1
https://doi.org/10.1159/000351127
https://pure.rug.nl/ws/files/56287926/351127.pdf

المؤلفون: Zanoni, P., Steindl, K., Sengupta, D., Sticht, H., Joset, P., Baar, A., van Ravenswaaij-Arts, C. M. A., Shinawi, M., Maystadt, I., Belnap, N., Benoit, V., de Vries, B. B. A., Lacombe, D., Larson, A., Pfundt, R., Ramsey, K., Blok, L. Snijders, Wheeler, P. G., Wevers, M. R., Gozani, O., Rauch, A.

المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: European Journal of Human Genetics, 28(SUPPL 1), 355-356. Nature Publishing Group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::0560694aa24ea491cbe317260a052aa8
https://research.rug.nl/en/publications/503c34d4-65e0-4658-8f0e-b67426b49fca

المؤلفون: Engwerda, A., Meijer, S. E., Bouman, P., de Souza, N. F. Simoes, Frentz, B., Flapper, B. C. T., Corsten-Janssen, N., Gerkes, E. H., Swertz, M. A., Plantinga, M., Dijkhuizen, T., Kerstjens-Frederikse, W. S., van Ravenswaaij-Arts, C. M. A.

المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: European Journal of Human Genetics, 28(SUPPL 1), 456-457. Nature Publishing Group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::895f8a2ceb173cb06139120ac40ee83c
https://research.rug.nl/en/publications/720e5760-24f1-4d7a-9e6f-45f9d3819b86

المؤلفون: Dul, E. C., Groen, H., van Ravenswaaij-Arts, C. M. A., Dijkhuizen, T., van Echten-Arends, J., Land, J. A.

المصدر: Dul , E C , Groen , H , van Ravenswaaij-Arts , C M A , Dijkhuizen , T , van Echten-Arends , J & Land , J A 2012 , ' The prevalence of chromosomal abnormalities in subgroups of infertile men ' , Human Reproduction , vol. 27 , no. 1 , pp. 36-43 . https://doi.org/10.1093/humrep/der374

مصطلحات موضوعية: chromosomal abnormalities, male infertility, azoospermia, ICSI, ASSISTED REPRODUCTIVE TECHNIQUES, Y-CHROMOSOME, CANDIDATE COUPLES, SUBJECT VARIATION, APPROPRIATE USE, WITHIN-SUBJECT, SEMEN ANALYSIS, GENETIC TESTS, MICRODELETIONS

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/a1d02ea6-22d6-444f-b4a6-48881bfd1ae4

الاتاحة: https://hdl.handle.net/11370/a1d02ea6-22d6-444f-b4a6-48881bfd1ae4
https://research.rug.nl/en/publications/a1d02ea6-22d6-444f-b4a6-48881bfd1ae4
https://doi.org/10.1093/humrep/der374
https://pure.rug.nl/ws/files/6773331/Dul_2012_Hum_Reprod.pdf

المؤلفون: Bergman, J E H, Janssen, N, Hoefsloot, L H, Jongmans, M C J, Hofstra, R M W, van Ravenswaaij-Arts, C M A

مصطلحات موضوعية: Phenotypes

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/48/5/334; http://dx.doi.org/10.1136/jmg.2010.087106

الاتاحة: http://jmg.bmj.com/cgi/content/short/48/5/334
https://doi.org/10.1136/jmg.2010.087106

المؤلفون: Dul, E. C., van Ravenswaaij-Arts, C. M. A., Groen, H., van Echten-Arends, J., Land, J. A., Tyulenev, Y., Naumenko, V., Kurilo, L., Shileiko, L., Segal, A., Klimova, R., Kushch, A., Ribas-Maynou, J., Garcia-Peiro, A., Abad, C., Amengual, M. J., Benet, J., Navarro, J., Colasante, A., Lobascio, A. M., Scarselli, F., Minasi, M. G., Alviggi, E., Rubino, P., Casciani, V., Pena, R., Varricchio, M. T., Litwicka, K., Ferrero, S., Zavaglia, D., Franco, G., Nagy, Z. P., Greco, E., Romany, L., Meseguer, M., Garcia-Herrero, S., Pellicer, A., Garrido, N., Dam, A., Pijnenburg, A., Hendriks, J. C., Westphal, J. R., Ramos, L., Kremer, J. A. M., Eertmans, F., Bogaert, V., Puype, B., Geisler, W., Clusmann, C., Klopsch, I.

المصدر: Human Reproduction ; volume 26, issue Supplement 1, page i123-i148 ; ISSN 0268-1161 1460-2350

مصطلحات موضوعية: Obstetrics and Gynecology, Rehabilitation, Reproductive Medicine

الاتاحة: http://dx.doi.org/10.1093/humrep/26.s1.75
http://academic.oup.com/humrep/article-pdf/26/suppl_1/i123/6754346/humrep-26-s1-75.pdf

المؤلفون: Dul, E. C., van Ravenswaaij-Arts, C. M. A., Groen, H., van Echten-Arends, J., Land, J. A.

المصدر: Dul , E C , van Ravenswaaij-Arts , C M A , Groen , H , van Echten-Arends , J & Land , J A 2010 , ' Who should be screened for chromosomal abnormalities before ICSI treatment? ' , Human Reproduction , vol. 25 , no. 11 , pp. 2673-2677 . https://doi.org/10.1093/humrep/deq258

مصطلحات موضوعية: chromosomal abnormality, ICSI, male infertility, sperm concentration, guidelines, INTRACYTOPLASMIC SPERM INJECTION, ASSISTED REPRODUCTIVE TECHNIQUES, MALE FACTOR INFERTILITY, CANDIDATE COUPLES, MALES, MEN, ABERRATIONS, CYTOGENETICS, PREVALENCE, KARYOTYPES

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/e8b2f4d7-1ad4-4225-99a0-4f039aac80a6
https://research.rug.nl/en/publications/e8b2f4d7-1ad4-4225-99a0-4f039aac80a6
https://doi.org/10.1093/humrep/deq258
https://pure.rug.nl/ws/files/6753401/Dul_2010_Hum_Reprod.pdf

المؤلفون: de Geus, C. M., Free, R. H., Verbist, B. M., Meiners, L. C., van Ravenswaaij-Arts, C. M. A.

المساهمون: Perceptual and Cognitive Neuroscience (PCN), Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: European Journal of Human Genetics, 27, 348-349. Nature Publishing Group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::d69387ae7d596daf41b322cfffaadce4
https://research.rug.nl/en/publications/82c3049b-24e6-4c0c-a11d-9f0257253b3c