المؤلفون: Ekelund, Charlotte, Fagerberg, Christina Ringmann, Kjærgaard, Susanne, Lindstrøm, Maiken, Nørgaard, Lone Nikoline, Skibsted, Lillian, Sperling, Lene, Sundberg, Karin Milner, Tabor, Ann, Vogel, Ida, Petersen, Olav Bjørn

المصدر: Ekelund, C, Fagerberg, C R, Kjærgaard, S, Lindstrøm, M, Nørgaard, L N, Skibsted, L, Sperling, L, Sundberg, K M, Tabor, A, Vogel, I & Petersen, O B 2013, Prænatal array-CGH (Comparativ Genomisk Hybridisering) . DFMS Guideline .

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::79fb63b2eefdfb7ebc2c5e56ecce01d6Test
https://pure.au.dk/ws/files/127931732/2013_DFMS_praenatal_Array_CGH_guideline_endelige.pdfTest

المؤلفون: Ekelund, Charlotte Kvist, Petersen, Olav Bjørn, Skibsted, Lillian, Kjaergaard, Susanne, Vogel, Ida, Tabor, Ann, Skovbo, Peter

المصدر: Ekelund , C K , Petersen , O B , Skibsted , L , Kjaergaard , S , Vogel , I , Tabor , A , The Danish Fetal Medicine Research Group & Skovbo , P 2011 , ' First trimester screening for Trisomy 21 in Denmark: Implications on detection and birth rates of Trisomy 18 and Trisomy 13 ' , Ultrasound in Obstetrics & Gynecology , vol. 38 , no. 2 , pp. 140-4 . https://doi.org/10.1002/uog.8929Test

الإتاحة: https://doi.org/10.1002/uog.8929Test
https://pure.au.dk/portal/da/publications/first-trimester-screening-for-trisomy-21-in-denmark-implications-on-detection-and-birth-rates-of-trisomy-18-and-trisomy-13Test(241baccf-7d5b-45bf-b92c-7e6e7ed0ba79).html

المؤلفون: Hoischen, Alexander, van Bon, Bregje W M, Rodríguez-Santiago, Benjamín, Gilissen, Christian, Vissers, Lisenka E L M, de Vries, Petra, Janssen, Irene, van Lier, Bart, Hastings, Rob, Smithson, Sarah F, Newbury-Ecob, Ruth, Kjærgaard, Susanne, Goodship, Judith, McGowan, Ruth, Bartholdi, Deborah, Rauch, Anita, Peippo, Maarit, Cobben, Jan M, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Veltman, Joris A, Brunner, Han G, de Vries, Bert B B A

المصدر: Hoischen , A , van Bon , B W M , Rodríguez-Santiago , B , Gilissen , C , Vissers , L E L M , de Vries , P , Janssen , I , van Lier , B , Hastings , R , Smithson , S F , Newbury-Ecob , R , Kjærgaard , S , Goodship , J , McGowan , R , Bartholdi , D , Rauch , A , Peippo , M , Cobben , J M , Wieczorek , D , Gillessen-Kaesbach , G , Veltman , J A , Brunner , H G ....

الإتاحة: https://doi.org/10.1038/ng.868Test
https://curis.ku.dk/portal/da/publications/de-novo-nonsense-mutations-in-asxl1-cause-bohringopitz-syndromeTest(7b8eb758-9142-4416-926f-a74eb380cf88).html

المؤلفون: Wohlleber, Eva, Kirchhoff, Eva Maria, Zink, Alexander M, Kreiss-Nachtsheim, Martina, Küchler, Alma, Jepsen, Birgit, Kjaergaard, Susanne, Engels, Hartmut

المصدر: Wohlleber , E , Kirchhoff , E M , Zink , A M , Kreiss-Nachtsheim , M , Küchler , A , Jepsen , B , Kjaergaard , S & Engels , H 2011 , ' Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation ' , European Journal of Medical Genetics , vol. 54 , no. 1 , pp. 67-72 . https://doi.org/10.1016/j.ejmg.2010.09.012Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2010.09.012Test
https://curis.ku.dk/portal/da/publications/clinical-and-molecular-characterization-of-two-patients-with-overlapping-de-novo-microdeletions-in-2p14p15-and-mild-mental-retardationTest(eeb607cc-e53f-43b7-90bd-7106009d4bcf).html

المؤلفون: Hansen, Thomas V O, Jønson, Lars, Steffensen, Ane Y, Andersen, Mette K, Kjaergaard, Susanne, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn C

المصدر: Hansen , T V O , Jønson , L , Steffensen , A Y , Andersen , M K , Kjaergaard , S , Gerdes , A-M , Ejlertsen , B & Nielsen , F C 2011 , ' Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations ' , Familial Cancer , vol. 10 , no. 2 , pp. 207-12 . https://doi.org/10.1007/s10689-011-9422-5Test

الإتاحة: https://doi.org/10.1007/s10689-011-9422-5Test
https://curis.ku.dk/portal/da/publications/screening-of-1331-danish-breast-andor-ovarian-cancer-families-identified-40-novel-brca1-and-brca2-mutationsTest(e8f7d478-5892-43bd-9dbe-504dc7325048).html

المؤلفون: Lugtenberg, Dorien, Zangrande-Vieira, Luiz, Kirchhoff, Maria, Whibley, Annabel, Oudakker, Astrid, Kjaergaard, Susanne, Vianna-Morgante, Angela, Kleefstra, Tjitske, Ruiter, Mariken, Jehee, Fernanda, Ullmann, Reinhard, Schwartz, Charles, Stratton, Michael, Raymond, F. Lucy, Veltman, Joris, Vrijenhoek, Terry, Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., Hehir-Kwa, Jayne, Froyen, Guy, Chelly, Jamel, Ropers, Hans Hilger, Moraine, Claude, Gècz, Jozef, Knijnenburg, Jeroen, Kant, Sarina, Hamel, Ben C.J., Rosenberg, Carla, van Bokhoven, Hans, de Brouwer, Arjan P.M.

المساهمون: Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: hal-04087609; https://hal.science/hal-04087609Test

الإتاحة: https://doi.org/10.1002/ajmg.a.33292Test
https://hal.science/hal-04087609Test

المؤلفون: Ottesen, Anne Marie, Aksglæde, Lise, Garn, Inger, Tartaglia, Nicole, Tassone, Flora, Gravholt, Claus H, Bojesen, Anders, Sørensen, Kaspar, Jørgensen, Niels, Rajpert-De Meyts, Ewa, Gerdes, Tommy, Lind, Anne-Marie, Kjærgaard, Susanne, Juul, Anders

المصدر: Ottesen , A M , Aksglæde , L , Garn , I , Tartaglia , N , Tassone , F , Gravholt , C H , Bojesen , A , Sørensen , K , Jørgensen , N , Rajpert-De Meyts , E , Gerdes , T , Lind , A-M , Kjærgaard , S & Juul , A 2010 , ' Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy ' , American Journal of Medical Genetics. Part A , vol. 152A , no. 5 , pp. 1206-12 ....

العلاقة: https://pure.au.dk/portal/da/publications/increased-number-of-sex-chromosomes-affects-height-in-a-nonlinear-fashion-a-study-of-305-patients-with-sex-chromosome-aneuploidyTest(17a8bb50-5684-11df-9806-000ea68e967b).html

الإتاحة: https://doi.org/10.1002/ajmg.a.33334Test
https://pure.au.dk/portal/da/publications/increased-number-of-sex-chromosomes-affects-height-in-a-nonlinear-fashion-a-study-of-305-patients-with-sex-chromosome-aneuploidyTest(17a8bb50-5684-11df-9806-000ea68e967b).html

المؤلفون: Hagen, Casper P, Aksglaede, Lise, Sørensen, Kaspar, Main, Katharina M, Boas, Malene, Cleemann, Line, Holm, Kirsten, Gravholt, Claus H, Andersson, Anna-Maria, Pedersen, Anette T, Petersen, Jørgen Holm, Linneberg, Allan, Kjaergaard, Susanne, Juul, Anders

المصدر: Hagen , C P , Aksglaede , L , Sørensen , K , Main , K M , Boas , M , Cleemann , L , Holm , K , Gravholt , C H , Andersson , A-M , Pedersen , A T , Petersen , J H , Linneberg , A , Kjaergaard , S & Juul , A 2010 , ' Serum Levels of Anti-Mullerian Hormone as a Marker of Ovarian Function in 926 Healthy Females from Birth to Adulthood and in 172 Turner Syndrome Patients ' , Journal of Clinical Endocrinology and Metabolism , vol. 95 ....

الإتاحة: https://doi.org/10.1210/jc.2010-0930Test
https://pure.au.dk/portal/da/publications/serum-levels-of-antimullerian-hormone-as-a-marker-of-ovarian-function-in-926-healthy-females-from-birth-to-adulthood-and-in-172-turner-syndrome-patientsTest(06072000-ae93-11df-8c1a-000ea68e967b).html

المؤلفون: Lautrup, Charlotte Kvist, Kjaergaard, Susanne, Brøndum-Nielsen, Karen, Fagerberg, Christina, Hertz, Jens Michael, Petersen, Olav Bjørn, Jørgensen, Mette Warming, Vogel, Ida

المصدر: Lautrup , C K , Kjaergaard , S , Brøndum-Nielsen , K , Fagerberg , C , Hertz , J M , Petersen , O B , Jørgensen , M W & Vogel , I 2008 , ' Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype ' , Acta Obstetricia et Gynecologica Scandinavica , vol. 87 , no. 11 , pp. 1252-5 . https://doi.org/10.1080/00016340802482994Test

مصطلحات موضوعية: Adult, Chorionic Villi Sampling, Chromosome Deletion, Chromosomes, Human, Pair 22, Female, Gene Deletion, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Neck, Nuchal Translucency Measurement, Pregnancy, Pregnancy Outcome, Pregnancy Trimester, First, Prenatal Diagnosis, Retrospective Studies, Syndrome, Ultrasonography, Prenatal

الإتاحة: https://doi.org/10.1080/00016340802482994Test
https://pure.au.dk/portal/da/publications/testing-for-22q11-microdeletion-in-146-fetuses-with-nuchal-translucency-above-the-99th-percentile-and-a-normal-karyotypeTest(8a97f910-d2c5-11df-8cb9-000ea68e967b).html

المؤلفون: Kjærgaard, Susanne, Hahnemann, Johanne M., Skibsted, L., Jensen, Lisa Neerup, Sperling, L., Zingenberg, H., Kristiansen, A., Brøndum-Nielsen, Karen

المصدر: Kjærgaard , S , Hahnemann , J M , Skibsted , L , Jensen , L N , Sperling , L , Zingenberg , H , Kristiansen , A & Brøndum-Nielsen , K 2008 , ' Prænatal diagnostik af kromosomsygdomme efter indførelse af risikovurdering for Downs syndrom ' , Ugeskrift for læger , bind 170 , nr. 14 , s. 1152-1156 . < http://www.ugeskriftet.dkTest >

الإتاحة: https://curis.ku.dk/portal/da/publications/praenatal-diagnostik-af-kromosomsygdomme-efter-indfoerelse-af-risikovurdering-for-downs-syndromTest(d78fab60-0679-11de-b05e-000ea68e967b).html
http://www.ugeskriftet.dkTest