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1069 citation(s) found for "Dürr, Alexandra".

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Parsons, Michael T. , Tudini, Emma , Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lídia , Aalfs, Cora M. , Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción , Arnold, Norbert, Auber, Bernd , Austin, Rachel , Azzollini, Jacopo , Balmañà, Judith , Bartram, Claus R., Blümcke, Britta, Bonache, Sandra , Bonanni, Bernardo, Borg, Åke , Bortesi, Beatrice, Brunet, Joan , Bruzzone, Carla, Bucksch, Karolin , Cagnoli, Giulia , Caldés, Trinidad, Caliebe, Almuth , Calvello, Mariarosaria , Capone, Gabriele Lorenzo, Caputo, Sandrine M. , Carrasco, Estela , Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia , Clarke, Edward , Cops, Elisa J., Cortesi, Laura , Couch, Fergus J., Darder, Esther , Debatin, Irmgard, Valle, Jesús Del , Delnatte, Capucine, Derive, Nicolas , Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana , Ehrencrona, Hans , Enders, Ute, Evans, D. Gareth , Farra, Chantal, Faust, Ulrike , Felbor, Ute , Feroce, Irène , Fine, Miriam, Galvão, Henrique C.R. , Gambino, Gaetana , Gehrig, Andrea, Gensini, Francesca , Germani, Aldo , Giesecke, J, Gómez, Carolina, Garcia, Encarna B., González, Sara , Grau, Èlia, Grill, Sabine , Groß, Eva, Guillaud‐Bataille, Marine , Gutiérrez‐Enríquez, Sara , Haaf, Thomas, Hackmann, Karl , Hansen, Thomas van Overeem , Harris, Marion, Hauke, Jan , Heinrich, T., Hellebrand, Heide, Herold, Karen, Honisch, Ellen, Horváth, Judit , Houdayer, Claude , Hübbel, Verena, Iglesias, Sílvia, Izquierdo, Á. , James, Paul A. , Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke , Keupp, Katharina, Kiechle, Marion , Kölbl, Alexandra C., Krieger, Sophie , Kruse, Torben A., Kvist, Anders , Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa , Lautrup, Charlotte Kvist , Ledig, Susanne, Leinert, Elena , Lim, Joanna , Loeffler, Markus, López‐Fernández, Adrià , Lucci‐Cordisco, Emanuela , Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica , Matricardi, Laura , Meindl, Alfons , Michelli, Rodrigo D., Moghadasi, Setareh , Moles‐Fernández, Alejandro , Montagna, Marco , Montalban, Gemma , Monteiro, Álvaro N.A. , Montes, Eva, Mori, Luigi , Müller, Clemens R., Mundhenke, Christoph , Naldi, Nadia, Nathanson, Katherine L. , Navarro, Matilde, Nichols, Cassandra , Niederacher, Dieter , Nielsen, Henriette Roed, Ong, Kai‐Ren , Pachter, Nicholas , Palmero, Edenir Inêz , Pedersen, Inge Søkilde , Peissel, Bernard , Pfeifer, Katharina, Pineda, Marta , Pohl‐Rescigno, Esther, Quante, Anne S. , Ramser, Juliane, Reis, Rui Manuel , Révillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela , Rofes, Paula , Rump, Andreas , Salinas, Mónica, Abajo, A.M. SÁnchez De, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Stiller, Mathias , Sullivan, Kelly J., Susman, Rachel , Sutter, Christian , Tavtigian, Sean V. , Teo, Soo‐Hwang , Thomassen, Mads, Tibiletti, Maria Grazia , Tognazzo, Silvia , Tornero, Eva , Törngren, Therese , Torres‐Esquius, Sara , Trainer, Alison, Tucker, Kathy , Asperen, Christi J. van, Mackelenbergh, Marion van , Varesco, Liliana, Vargas‐Parra, Gardenia , Varon, Raymonda, Vega, Ana , Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra , Vreeswijk, Maaike P.G. , Wagner, Sebastian , Waha, Anke, Walker, Logan C., Walters, Rhiannon, Wang‐Gohrke, Shan , Weber, Bernhard , Weichert, Wilko , Wieland, Kerstin, Wöckel, Achim , Woodward, Emma R. , Zachariae, Silke , Zampiga, Valentina , Zeder-Göß, C, Investigators, KConFab, Lázaro, Conxi, Nicolo, Arcangela De , Radice, Paolo , Engel, Christoph , Schmutzler, Rita K., Goldgar, David E. , Manoukian, Siranoush , Gómez, E. , Houdayer, Claude , de la Hoya, Miguel , Diez, Orland , Eccles, Diana , Gutiérrez-Enríquez, Sara , Susman, Rachel , Tavtigian, Sean V , Toland, Amanda Ewart , Toss, Angela , Vega, Ana , Vreeswijk, Maaike P G , Woodward, Emma R , Radice, Paolo , Spurdle, Amanda B , James, Paul , Parsons, Michael T , Teo, Soo H , Monteiro, Alvaro N , Auber, Bernd , Azzollini, Jacopo , Brunet, Joan , Darder, Esther , Ehrencrona, Hans , Evans, D Gareth , Matricardi, Laura , Palmero, Edenir I , Nathanson, Katherine L , Pineda, Marta , Cini, Giulia , Cortesi, Laura , Del Valle, Jesús , Engel, Christoph , Izquierdo, Angel , Montagna, Marco , Rump, Andreas , Viel, Alessandra , Reis, Rui Manuel , Montalban, Gemma , Calvello, Mariarosaria , Feliubadaló, Lidia , Gómez-García, Encarna B , González, Sara , Hansen, Thomas van Overeem , Hauke, Jan , Zampiga, Valentina , De Nicolo, Arcangela , Manoukian, Siranoush , Li, Hongyan , Hahnen, Eric , Agata, Simona , Barbieri, Elena , Blanco, Ana , Bonanni, Bernardo , Bruzzone, Carla, Caligo, Maria A. , Carnevali, Ileana Wanda , Cavalli, Pietro , Concolino, Paola , Hoya, Miguel de la , Dean, Michael , Dı́ez, Orland , Farra, Chantal, Foulkes, William D. , Gerdes, Anne‐Marie , Gismondi, Viviana , Garcia, Encarna B., Guerrieri‐Gonzaga, Aliana , Guillaud-Bataille, Marine , Jeschke, Udo , Lewis, Alexandra L. , Loeffler, Markus, Meindl, Alfons , Moserle, Lidia , Navarro, Matilde, Nevanlinna, Heli , Papi, Laura , Perez-Segura, Pedro , Pohl‐Rescigno, Esther, Poplawski, Nicola Kazia , Porfirio, Berardino , Révillion, Françoise, Rhiem, Kerstin , Steinemann, Doris , Stoppa‐Lyonnet, Dominique , Sullivan, Kelly J., Teulé, Àlex , Tischkowitz, Marc D. , Asperen, Christi J. van , Varesco, Liliana , Velasco, Àngela , Weber, Bernhard H. F., Wiesmüller, Lisa , Witzel, Isabell , Investigators, kConFab, Lázaro, Conxi, Spurdle, Amanda B. , Balmaña, Judith , Austin, Rachel

Human Mutation | May 27, 2019 | Volume: 40 | Issue: 9 | Pages: 1557-1578

10.1002/humu.23818 | PMID 31131967 Get It

Adolescent male fertility following reduced‐intensity conditioning regimen for hematopoietic stem cell transplantation in non‐malignant disorders
Zhao, Jun , Beebe, Kristen , Magee, Kyrie, Salzberg, Dana, Stahlecker, Jennifer, Miller, Holly, Adams, Roberta H. , Lipskind, S.T., Walsh, Alexandra , Mirea, Lucia , Ngwube, Alexander

Pediatric Transplantation | May 24, 2019 | Volume: 23 | Issue: 6 | Pages: No page available

10.1111/petr.13496 | PMID 31124253 Get It

AbstractIntroductionThe effects of RIC for HSCT on male fertility remain unknown. We investigated spermatogenesis and gonadal hormonal status among adolescent male patients who received RIC HSCT for non‐malignant diseases.Patients and MethodsPatients with non‐malignant disease who had undergone a RIC HSCT were recruited and evaluated for spermatogenesis via semen analysis and gonadal hormonal function via serum hormone levels. Those who had received prior chemotherapy or radiation were excluded from the study. We reviewed the charts to record demographic factors, conditioning regimen and complications during and after transplant.ResultsFive patients were enrolled. The median age at the time of transplant was 15 years (range, 11‐19 years), and the median time between bone marrow transplant and semen analysis was 5 years (range, 3‐11 years). Median age of patients was 20 years (range, 18‐25 years) at the time of the study. Serum FSH and LH levels were elevated in four patients, and inhibin B levels were low for age in three patients. Semen analysis showed two patients had azoospermia, and the remaining three patients showed severe oligozoospermia. Normal morphology and motility were seen in only one patient.ConclusionThis case series suggests that RIC transplants may be associated with impaired spermatogenesis and sequential follow‐up is necessary given the potential for either permanent impairment or delayed recovery. Further larger studies are needed to confirm these findings.
Case 4: Thrombocytopenia and Hematochezia in an Infant
Schaller, Alexandra, Myers, Angela , Khan, Shakila P. , Joshi, Avni Y. , Rodriguez, Vilmarie , Maher, George, Khan, Shakila, Joshi, Avni, Myers, Angela

Pediatrics In Review | May 1, 2019 | Volume: 40 | Issue: 5 | Pages: 254-255

10.1542/pir.2016-0199 | PMID 31043446 Get It

Effect of grade (G) 3 fibrosis on clinical outcome of patients (Pts) with myelodysplastic syndromes (MDS): Mayo Clinic Experience.
Cheema, Naveed, Baidoun, Firas , Zblewski, Darci, Hashmi, Shahrukh K. , Gangat, Naseema , Wolanskyj, Alexandra P., Litzow, Mark R. , Chen, Dong, Al‐Kali, Aref , Cheema, Naveed, Hogan, William J. , Chen, Dong, Baidoun, Firas

Journal of Clinical Oncology | April 19, 2019 | Volume: 33 | Issue: 15_suppl | Pages: 7085-7085

10.1200/jco.2015.33.15_suppl.7085 Get It

Association of hemophagocytic lymphohistiocytosis (HLH) with poor outcomes in adults with NK- and T-cell lymphoma (NKTCL).
O’Byrne, Megan M., Kapoor, Prashant , Wolanskyj, Alexandra P., Feldman, Andew L., Shah, Meera , Witzig, Thomas E. , Link, Brian K. , Cerhan, James R. , Maurer, Matthew J. , Parikh, Sameer A.

Journal of Clinical Oncology | April 19, 2019 | Volume: 33 | Issue: 15_suppl | Pages: 8561-8561

10.1200/jco.2015.33.15_suppl.8561 Get It

The prognostic impact of combined NPM1+/FLT3- mutational status in newly diagnosed acute myeloid leukemia (AML) patients with intermediate risk cytogenetics according to age and treatment modality.
Patnaik, Mrinal M. , Wolanskyj, Alexandra P., Zblewski, Darci, Elliott, Michelle A. , Litzow, Mark R. , Al‐Kali, Aref , Hefazi, Mehrdad , Siddiqui, Mustaqeem , Alkhateeb, Hassan B. , Hogan, William J.

Journal of Clinical Oncology | April 19, 2019 | Volume: 33 | Issue: 15_suppl | Pages: 7064-7064

10.1200/jco.2015.33.15_suppl.7064 Get It

Meta-Analysis and Evidence Base for the Efficacy of Autologous Bone Marrow Mesenchymal Stem Cells in Knee Cartilage Repair: Methodological Guidelines and Quality Assessment
Awad, Mohamed E. , Abdelsamid, Mohamed Farouk, Aguilar‐Perez, Alexandra, Mohsen, Ibrahim , Hunter, Monte, Hamrick, Mark W. , Isales, Carlos M. , Elsalanty, Mohammed , Hill, William , Fulzele, Sadanand , Elsisy, Mohamed F. , Abdelsamid, Mohamed F, Hamrick, Mark W , Hill, William D , Fulzele, Sadanand , Hussein, Khaled A. , Helwa, Inas

Stem Cells International | April 7, 2019 | Volume: 2019 | Issue: No issue available | Pages: 1-15

10.1155/2019/3826054 | PMID 31089328 Get It

The aim of this study is to review all the published clinical trials on autologous bone marrow mesenchymal stem cells (BM-MSCs) in the repair of cartilage lesions of the knee. We performed a comprehensive search in three electronic databases: PubMed, Medline via Ovid, and Web of Science. A systematic review was conducted according to the guidelines of PRISMA protocol and the Cochrane Handbook for Systematic Reviews of Interventions. The modified Coleman methodology score was used to assess the quality of the included studies. Meta-analysis was conducted to estimate the effect size for Pain and function change after receiving BM-MSCs. Thirty-three studies—including 724 patients of mean age 44.2 years—were eligible. 50.7% of the included patients received cultured BM-MSCs for knee cartilage repair. There was improvement in the MINORS quality score over time with a positive correlation with the publication year. Meta-analysis indicated better improvement and statistical significance in the Visual Analog Scale for Pain, IKDC Function, Tegner Activity Scale, and Lysholm Knee Score after administration of noncultured BM-MSCs when compared to evaluation before the treatment. Meanwhile, there was a clear methodological defect in most studies with an average modified Coleman methodology score (MCMS) of 55. BM-MSCs revealed a clinically relevant improvement in pain, function, and histological regeneration.
Microsurgical Treatment of Foramen Magnum Cognard Type V Dural Arteriovenous Fistula: 2-Dimensional Operative Video
Sattur, Mithun G. , Abi-Aad, Karl R., Richards, Alexandra E. , Chong, Brian W. , Welz, Matthew E., Tian, Fucheng, Bendok, Bernard R.

Operative Neurosurgery | March 28, 2019 | Volume: 17 | Issue: 5 | Pages: E203-E203

10.1093/ons/opz030 | PMID 30919907 Get It

Abstract Cognard type V dural fistulas represent a rare and unique entity, and present clinically with myelopathy. They are frequently located around the foramen magnum and are most commonly fed by dural branches of the vertebral and external carotid artery. Detection requires meticulous angiography to define the angioarchitecture of the fistula, which in turn defines the treatment modality. We present the case of a 63 yr old woman, after informed consent was obtained, with prolonged, severe and progressive lower extremity myelopathy for 6 yr, with T2-weighted signal changes in the thoracic spinal cord on magnetic resonance imaging (MRI). Cervical MRI was unremarkable. Following computed tomography (CT), angiography of the spinal canal that revealed tortuous and dilated veins on the thoracic spinal cord surface, catheter angiography was performed. This demonstrated a fistula in relation to a dural branch of left vertebral artery with a characteristic single draining vein coursing caudally to the thoracic level, with delayed outflow suggestive of venous hypertension. Given the fact that the dural feeder was tortuous and relatively small, thus, precluding distal microcatheter access, and with presence of a single accessible draining vein, microsurgical treatment was preferred. Following a midline suboccipital craniotomy in prone position, a limited vertical dural opening was performed. Careful microsurgical arachnoid dissection revealed the arterialized draining vein with the aid of Indocyanine Green angiography. The draining vein was clipped, coagulated, and disconnected. Postoperative recovery was uneventful and the patient is undergoing rehabilitation therapy. Follow-up angiography showed complete elimination of the fistula. Salient teaching points are narrated at conclusion.