نتائج البحث - "Blomhoff, Anne"

1

دورية أكاديمية

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia AL, Nibbeling, Esther, Dingemans, Alexander JM, Douine, Emilie D, Nelson, Stanley F, Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A, Newbury-Ecob, Ruth

المصدر: Genetics in Medicine. 21(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Brain Disorders, Rare Diseases, Pediatric, Clinical Research, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Developmental Disabilities, Exome, Female, Genetic Association Studies, Genotype, Histone Acetyltransferases, Humans, Infant, Intellectual Disability, Male, Microcephaly, Mutation, Phenotype, Protein Isoforms, Young Adult, genetic diagnosis, phenotypic spectrum, KAT6A syndrome, chromatin modifiers, intellectual disability, DDD Study, KAT6A syndrome, chromatin modifiers, intellectual disability, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79s761gbTest

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2

دورية أكاديمية

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

المؤلفون: Harris, Holly K, Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S, Soucy, Aubrie, Genetti, Casie A, Suslovitch, Victoria, Rodan, Lance H, Tiller, George E, Lesca, Gaetan, Gripp, Karen W, Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D, Turnpenny, Peter D, Simon, Marleen E H, Volker-Touw, Catharina M L, Gassen, Koen L I van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B A de, Immken, LaDonna L, Buchanan, Catherine, Willing, Marcia, Toler, Tomi L, Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L, Fannemel, Madeleine, Posey, Jennifer E, Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R, Larsen, Martin J, Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K, Walsh, Laurence E, Aldinger, Kimberly A, Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P, Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B, Cohen, Lilian L, Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B, Beggs, Alan H, Yu, Timothy W

المصدر: Harris , H K , Nakayama , T , Lai , J , Zhao , B , Argyrou , N , Gubbels , C S , Soucy , A , Genetti , C A , Suslovitch , V , Rodan , L H , Tiller , G E , Lesca , G , Gripp , K W , Asadollahi , R , Hamosh , A , Applegate , C D , Turnpenny , P D , Simon , M E H , Volker-Touw , C M L , Gassen , K L I V , Binsbergen , E V ....

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/d55e32ba-6c09-4131-a27a-44da2dd4b882Test

الإتاحة: https://doi.org/10.1038/s41436-021-01114-zTest
https://portal.findresearcher.sdu.dk/da/publications/d55e32ba-6c09-4131-a27a-44da2dd4b882Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9472083/pdf/nihms-1690974.pdfTest

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3

دورية أكاديمية

Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2)

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L., McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J., Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Hempel, Maja, Bierhals, Tatjana, Lessel, Davor, Johannsen, Jessika, Arboleda, Valerie A., Newbury-Ecob, Ruth

المصدر: Kennedy , J , Goudie , D , Blair , E , Chandler , K , Joss , S , McKay , V , Green , A , Armstrong , R , Lees , M , Kamien , B , Hopper , B , Tan , T Y , Yap , P , Stark , Z , Okamoto , N , Miyake , N , Matsumoto , N , Macnamara , E , Murphy , J L , McCormick , E , Hakonarson , H , Falk , M J , Li , D , Blackburn , P , ....

العلاقة: https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410Test

الإتاحة: https://doi.org/10.1038/s41436-020-00944-7Test
https://doi.org/10.1038/s41436-018-0259-2Test
https://research.vumc.nl/en/publications/fa0da8e1-b08a-4d21-abfd-0966d2941410Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85089491461&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/32814847Test

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4

دورية أكاديمية

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

المؤلفون: Pedurupillay, Christeen Ramane J., Amundsen, Silja S., Barøy, Tuva, Rasmussen, Magnhild, Blomhoff, Anne, Stadheim, Barbro Fossøy, Ørstavik, Kristin, Holmgren, Asbjørn, Iqbal, Tahir, Frengen, Eirik, Misceo, Doriana, Strømme, Petter

المساهمون: Norwegian South-East Regional Health Authority

المصدر: Neuromuscular Disorders ; volume 26, issue 9, page 570-575 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2016.06.457Test
https://api.elsevier.com/content/article/PII:S0960896615300845?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0960896615300845?httpAccept=text/xmlTest

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5

دورية أكاديمية

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

المؤلفون: Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E.H., Volker-Touw, Catharina M.L., van Gassen, Koen L.I., van Binsbergen, Ellen, Pfundt, Rolph, Gardeitchik, Thatjana, de Vries, Bert B.A., Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Jr., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P., Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B., Cohen, Lilian L., Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B., Beggs, Alan H., Yu, Timothy W.

المساهمون: Neurology, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Attention Deficit Disorder with Hyperactivity, Autism Spectrum Disorder, Autistic Disorder, Intellectual Disability

وصف الملف: application/pdf

العلاقة: Genetics in Medicine; Harris HK, Nakayama T, Lai J, et al. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021;23(6):1028-1040. doi:10.1038/s41436-021-01114-z; https://hdl.handle.net/1805/35178Test

الإتاحة: https://doi.org/10.1038/s41436-021-01114-zTest
https://hdl.handle.net/1805/35178Test

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6

دورية أكاديمية

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

المؤلفون: Barøy, Tuva, Misceo, Doriana, Strømme, Petter, Stray-Pedersen, Asbjørg, Holmgren, Asbjørn, Rødningen, Olaug K, Blomhoff, Anne, Helle, Johan R, Stormyr, Alice, Tvedt, Bjørn, Fannemel, Madeleine, Frengen, Eirik

العلاقة: http://urn.nb.no/URN:NBN:no-51150Test; Orphanet Journal of Rare Diseases. 2013 Jan 07;8(1):3; http://hdl.handle.net/10852/46993Test; http://dx.doi.org/10.1186/1750-1172-8-3Test; URN:NBN:no-51150; Fulltext https://www.duo.uio.no/bitstream/handle/10852/46993/1/13023_2012_Article_553.pdfTest

الإتاحة: https://doi.org/10.1186/1750-1172-8-3Test
http://hdl.handle.net/10852/46993Test
http://urn.nb.no/URN:NBN:no-51150Test

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7

دورية أكاديمية

Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease

المؤلفون: Skinningsrud, Beate, Husebye, Eystein S, Gervin, Kristina, Løvås, Kristian, Blomhoff, Anne, Wolff, Anette B, Kemp, E Helen, Egeland, Thore, Undlien, Dag E

المصدر: European Journal of Human Genetics ; volume 16, issue 8, page 977-982 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2008.33Test
http://www.nature.com/articles/ejhg200833.pdfTest
http://www.nature.com/articles/ejhg200833Test

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8

دورية أكاديمية

KAT6A Syndrome:genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

المؤلفون: Kennedy, Joanna, Goudie, David, Blair, Edward, Chandler, Kate, Joss, Shelagh, McKay, Victoria, Green, Andrew, Armstrong, Ruth, Lees, Melissa, Kamien, Benjamin, Hopper, Bruce, Tan, Tiong Yang, Yap, Patrick, Stark, Zornitza, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Macnamara, Ellen, Murphy, Jennifer L, McCormick, Elizabeth, Hakonarson, Hakon, Falk, Marni J, Li, Dong, Blackburn, Patrick, Klee, Eric, Babovic-Vuksanovic, Dusica, Schelley, Susan, Hudgins, Louanne, Kant, Sarina, Isidor, Bertrand, Cogne, Benjamin, Bradbury, Kimberley, Williams, Mark, Patel, Chirag, Heussler, Helen, Duff-Farrier, Celia, Lakeman, Phillis, Scurr, Ingrid, Kini, Usha, Elting, Mariet, Reijnders, Margot, Schuurs-Hoeijmakers, Janneke, Wafik, Mohamed, Blomhoff, Anne, Ruivenkamp, Claudia A. L., Nibbeling, Esther, Dingemans, Alexander J. M., Douine, Emilie D., Nelson, Stanley F., Arboleda, Valerie A., Newbury-Ecob, Ruth

المصدر: Deciphering Developmental Disorders (DDD) Study , Kennedy , J , Goudie , D , Blair , E , Chandler , K , Joss , S , McKay , V , Green , A , Armstrong , R , Lees , M , Kamien , B , Hopper , B , Tan , T Y , Yap , P , Stark , Z , Okamoto , N , Miyake , N , Matsumoto , N , Macnamara , E , Murphy , J L , McCormick , E , Hakonarson , H , Falk , M J , Li , ....

مصطلحات موضوعية: KAT6A syndrome, chromatin modifiers, intellectual disability, genetic diagnosis, phenotypic spectrum, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)

العلاقة: https://discovery.dundee.ac.uk/en/publications/d3084c02-f3c8-4c36-85d4-05c9a4530cacTest

الإتاحة: https://doi.org/10.1038/s41436-018-0259-2Test
https://discovery.dundee.ac.uk/en/publications/d3084c02-f3c8-4c36-85d4-05c9a4530cacTest
http://www.scopus.com/inward/record.url?scp=85053824960&partnerID=8YFLogxKTest

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