Search Results - "Sørensen, Kristina P."

Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling by Larsen, Martin J, Kruse, Torben A, Tan, Qihua, Lænkholm, Anne-Vibeke, Bak, Martin, Lykkesfeldt, Anne E, Sørensen, Kristina P, Hansen, Thomas V O, Ejlertsen, Bent, Gerdes, Anne-Marie, Thomassen, Mads

“…Pathogenic germline mutations in BRCA1 or BRCA2 are detected in less than one third of families with a strong history of breast cancer. It is therefore…”
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Ensemble‐based classification using microRNA expression identifies a breast cancer patient subgroup with an ultralow long‐term risk of metastases by Block, Ines, Burton, Mark, Sørensen, Kristina P., Larsen, Martin J., Do, Thi T. N., Bak, Martin, Cold, Søren, Thomassen, Mads, Tan, Qihua, Kruse, Torben A.

“…Background Current clinical markers overestimate the recurrence risk in many lymph node negative (LNN) breast cancer (BC) patients such that a majority of…”
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Long non-coding RNA HOTAIR is an independent prognostic marker of metastasis in estrogen receptor-positive primary breast cancer by Sørensen, Kristina P., Thomassen, Mads, Tan, Qihua, Bak, Martin, Cold, Søren, Burton, Mark, Larsen, Martin J., Kruse, Torben A.

“…Expression of HOX transcript antisense intergenic RNA ( HOTAIR )—a long non-coding RNA—has been examined in a variety of human cancers, and overexpression of…”
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De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities by Martin, Sonja, Chamberlin, Adam, Shinde, Deepali N., Hempel, Maja, Strom, Tim M., Schreiber, Allison, Johannsen, Jessika, Ousager, Lilian Bomme, Larsen, Martin J., Hansen, Lars Kjaersgaard, Fatemi, Ali, Cohen, Julie S., Lemke, Johannes, Sørensen, Kristina P., Helbig, Katherine L., Lessel, Davor, Abou Jamra, Rami

“…Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual…”
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Association of miR-548c-5p, miR-7-5p, miR-210-3p, miR-128-3p with recurrence in systemically untreated breast cancer by Block, Ines, Burton, Mark, Sørensen, Kristina P, Andersen, Lars, Larsen, Martin J, Bak, Martin, Cold, Søren, Thomassen, Mads, Tan, Qihua, Kruse, Torben A

“…Current prognostic markers allocate the majority of lymph node (LN) negative and estrogen receptor (ER) positive breast cancer patients into the high-risk…”
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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies by Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.

“…The identification of genetic variants implicated in human developmental disorders has been revolutionized by second-generation sequencing combined with…”
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Long non-coding RNA expression profiles predict metastasis in lymph node-negative breast cancer independently of traditional prognostic markers by Sørensen, Kristina P, Thomassen, Mads, Tan, Qihua, Bak, Martin, Cold, Søren, Burton, Mark, Larsen, Martin J, Kruse, Torben A

“…Patients with clinically and pathologically similar breast tumors often have very different outcomes and treatment responses. Current prognostic markers…”
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Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect by Mathorne, Stine W., Ravn, Pernille, Hansen, Dorte, Beck‐Nielsen, Signe S., Gjørup, Hans, Sørensen, Kristina P., Fagerberg, Christina R.

“…There is growing evidence that TP63 is associated with isolated as well as syndromic premature ovarian insufficiency (POI). We report two adolescent sisters…”
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature by Kushary, Sulagna Tina, Revah‐Politi, Anya, Barua, Subit, Ganapathi, Mythily, Accogli, Andrea, Aggarwal, Vimla, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Capra, Valeria, Fagerberg, Christina R., Gazdagh, Gabriella, Guzman, Edwin, Hadonou, Medard, Harrison, Victoria, Havelund, Kathrine, Iancu, Daniela, Kraus, Alison, Lippa, Natalie C., Mansukhani, Mahesh, McBrian, Danielle, McEntagart, Meriel, Pacio‐Míguez, Marta, Palomares‐Bralo, María, Pottinger, Carrie, Ruivenkamp, Claudia A. L., Sacco, Oliviero, Santen, Gijs W. E., Santos‐Simarro, Fernando, Scala, Marcello, Short, John, Sørensen, Kristina P., Woods, Christopher G., Anyane Yeboa, Kwame

“…Zhu‐Tokita‐Takenouchi‐Kim (ZTTK) syndrome is caused by de novo loss‐of‐function variants in the SON gene (MIM #617140). This multisystemic disorder is…”
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Microarray-Based RNA Profiling of Breast Cancer : Batch Effect Removal Improves Cross-Platform Consistency by Larsen, Martin J., Thomassen, Mads, Tan, Qihua, Sørensen, Kristina P., Kruse, Torben A.

“…Microarray is a powerful technique used extensively for gene expression analysis. Different technologies are available, but lack of standardization makes it…”
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Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements by Schönewolf‐Greulich, Bitten, Bisgaard, Anne‐Marie, Dunø, Morten, Jespersgaard, Cathrine, Rokkjær, Mette, Hansen, Lars K., Tsoutsou, Eirini, Sofokleous, Christalena, Topcu, Meral, Kaur, Simran, Van Bergen, Nicole J., Brøndum‐Nielsen, Karen, Larsen, Martin J., Sørensen, Kristina P., Christodoulou, John, Fagerberg, Christina R., Tümer, Zeynep

“…Rett syndrome is rarely suspected in males because of the X‐linked dominant inheritance. In the literature, only six male patients have been reported with…”
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Comparison of the Metastasis Predictive Potential of mRNA and Long Non-Coding RNA Profiling in Systemically Untreated Breast Cancer by Do, Thi T. N., Block, Ines, Burton, Mark, Sørensen, Kristina P., Larsen, Martin J., Bak, Martin, Cold, Søren, Thomassen, Mads, Tan, Qihua, Kruse, Torben A.

“…Several gene expression signatures based on mRNAs and a few based on long non-coding RNAs (lncRNAs) have been developed to provide prognostic information…”
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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies by Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.

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RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families by Larsen, Martin J, Thomassen, Mads, Tan, Qihua, Lænkholm, Anne-Vibeke, Bak, Martin, Sørensen, Kristina P, Andersen, Mette Klarskov, Kruse, Torben A, Gerdes, Anne-Marie

“…In more than 70% of families with a strong history of breast and ovarian cancers, pathogenic mutation in BRCA1 or BRCA2 cannot be identified, even though…”
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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability by Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Carels, Marieke, Agrawal, Pankaj, Armstrong Scott, Daryl, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Du, Haowei, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Sals, Karen, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Dermaut, Bart, Sadikovic, Bekim, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

“…Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function (LoF) variation in ZFHX3…”
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