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Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63819
By:
- Klamut, Natalia;
- Bothwell, Samantha;
- Carl, Alexandra E.;
- Bamba, Vaneeta;
- Law, Jennifer R.;
- Brickman, Wendy J.;
- Klein, Karen O.;
- Kanakatti Shankar, Roopa;
- Pinnaro, Catherina T.;
- Fechner, Patricia Y.;
- Prakash, Siddharth K.;
- Gutmark‐Little, Iris;
- Howell, Susan;
- Tartaglia, Nicole;
- Good, Marybel;
- Ranallo, Kelly C.;
- Davis, Shanlee M.
Publication type:
Article
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1406
By:
- Musfee, Fadi I.;
- Guo, Dongchuan;
- Pinard, Amélie C.;
- Hostetler, Ellen M.;
- Blue, Elizabeth E.;
- Nickerson, Deborah A.;
- Bamshad, Michael J.;
- Milewicz, Dianna M.;
- Prakash, Siddharth K.
Publication type:
Article
The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in Turner Syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 7, doi. 10.1002/ajmg.c.31691
By:
- Prakash, Siddharth K.
Publication type:
Article
The Turner syndrome research registry: Creating equipoise between investigators and participants.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 135, doi. 10.1002/ajmg.c.31689
By:
- Prakash, Siddharth K.;
- Lugo‐Ruiz, Soniely;
- Rivera‐Dávila, Michelle;
- Rubio, Nunilo;
- Shah, Avni N.;
- Knickmeyer, Rebecca C.;
- Scurlock, Cindy;
- Crenshaw, Melissa;
- Davis, Shanlee M.;
- Lorigan, Gary A.;
- Dorfman, Aaron T.;
- Rubin, Karen;
- Maslen, Cheryl;
- Bamba, Vaneeta;
- Kruszka, Paul;
- Silberbach, Michael
Publication type:
Article
"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 36, doi. 10.1002/ajmg.c.31671
By:
- Prakash, Siddharth K.;
- San Roman, Adrianna K.;
- Crenshaw, Melissa;
- Flink, Barbara;
- Earle, Kimberly;
- Los, Evan;
- Bonnard, Åsa;
- Lin, Angela E.
Publication type:
Article
X‐linked genetic associations in sporadic thoracic aortic dissection.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63644
By:
- Musfee, Fadi I.;
- Jun, Goo;
- Mitchell, Laura E.;
- Chen, Han;
- Guo, Dongchuan;
- Prakash, Siddharth K.;
- Adkar, Shaunak Sanjay;
- Grove, Megan L.;
- Choi, Ryan Bohyun;
- Klarin, Derek;
- Boerwinkle, Eric;
- Milewicz, Dianna M.
Publication type:
Article
Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 311, doi. 10.1002/ajmg.a.63441
By:
- Kanakatti Shankar, Roopa;
- Carl, Alexandra;
- Law, Jennifer R.;
- Bamba, Vaneeta;
- Brickman, Wendy J.;
- Prakash, Siddharth K.;
- Dowlut McElroy, Tazim;
- Howell, Susan;
- Gutmark Little, Iris;
- Klein, Karen O.;
- Pinnaro, Catherina T.;
- Ranallo, Kelly;
- Good, Marybel;
- Davis, Shanlee M.
Publication type:
Article
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 628, doi. 10.1002/ajmg.a.62541
By:
- Cecchi, Alana C.;
- Haidar, Amier;
- Marin, Isabella;
- Kwartler, Callie S.;
- Prakash, Siddharth K.;
- Milewicz, Dianna M.
Publication type:
Article
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1987, doi. 10.1002/ajmg.a.61310
By:
- Lin, Angela E.;
- Prakash, Siddharth K.;
- Andersen, Niels H.;
- Viuff, Mette H.;
- Levitsky, Lynne L.;
- Rivera‐Davila, Michelle;
- Crenshaw, Melissa L.;
- Hansen, Lars;
- Colvin, Mary K.;
- Hayes, Frances J.;
- Lilly, Evelyn;
- Snyder, Emma A.;
- Nader‐Eftekhari, Shahla;
- Aldrich, Melissa B.;
- Bhatt, Ami B.;
- Prager, Laura M.;
- Arenivas, Ana;
- Skakkebaek, Anne;
- Steeves, Marcie A.;
- Kreher, Jeffrey B.
Publication type:
Article
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2176, doi. 10.1002/ajmg.a.38309
By:
- Hanchard, Neil A.;
- Umana, Luis A.;
- D'Alessandro, Lisa;
- Azamian, Mahshid;
- Poopola, Mojisola;
- Morris, Shaine A.;
- Fernbach, Susan;
- Lalani, Seema R.;
- Towbin, Jeffrey A.;
- Zender, Gloria A.;
- Fitzgerald‐Butt, Sara;
- Garg, Vidu;
- Bowman, Jessica;
- Zapata, Gladys;
- Hernandez, Patricia;
- Arrington, Cammon B.;
- Furthner, Dieter;
- Prakash, Siddharth K.;
- Bowles, Neil E.;
- McBride, Kim L.
Publication type:
Article
Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3157, doi. 10.1002/ajmg.a.37953
By:
- Prakash, Siddharth K.;
- Bondy, Carolyn A.;
- Maslen, Cheryl L.;
- Silberbach, Michael;
- Lin, Angela E.;
- Perrone, Laura;
- Limongelli, Giuseppe;
- Michelena, Hector I.;
- Bossone, Eduardo;
- Citro, Rodolfo;
- Lemaire, Scott A.;
- Body, Simon C.;
- Milewicz, Dianna M.
Publication type:
Article
Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1962, doi. 10.1002/ajmg.a.37121
By:
- Backeljauw, Philippe F.;
- Bondy, Carolyn;
- Chernausek, Steven D.;
- Cernich, Joseph T.;
- Cole, David A.;
- Fasciano, Laura P.;
- Foodim, Joan;
- Hawley, Scott;
- Hong, David S.;
- Knickmeyer, Rebecca C.;
- Kruszka, Paul;
- Lin, Angela E.;
- Lippe, Barbara M.;
- Lorigan, Gary A.;
- Maslen, Cheryl L.;
- Mauras, Nelly;
- Page, David C.;
- Pemberton, Victoria L.;
- Prakash, Siddharth K.;
- Quigley, Charmian A.
Publication type:
Article
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 916, doi. 10.1038/ng.2348
By:
- Boileau, Catherine;
- Guo, Dong-Chuan;
- Hanna, Nadine;
- Regalado, Ellen S;
- Detaint, Delphine;
- Gong, Limin;
- Varret, Mathilde;
- Prakash, Siddharth K;
- Li, Alexander H;
- d'Indy, Hyacintha;
- Braverman, Alan C;
- Grandchamp, Bernard;
- Kwartler, Callie S;
- Gouya, Laurent;
- Santos-Cortez, Regie Lyn P;
- Abifadel, Marianne;
- Leal, Suzanne M;
- Muti, Christine;
- Shendure, Jay;
- Gross, Marie-Sylvie
Publication type:
Article
Maternal and fetal outcomes of bicuspid aortic valve with early-onset complications.
Published in:
2023
By:
- Truly, Tate;
- Huang, Michael;
- Prakash, Siddharth K.
Publication type:
journal article
Refining the course: long-term outcome in patients with bicuspid aortic valve.
Published in:
European Heart Journal, 2023, v. 44, n. 43, p. 4563, doi. 10.1093/eurheartj/ehad621
By:
- Backer, Julie De;
- Prakash, Siddharth K
Publication type:
Article
Summary: international consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
Published in:
European Journal of Cardio-Thoracic Surgery, 2021, v. 60, n. 3, p. 481, doi. 10.1093/ejcts/ezab039
By:
- Michelena, Hector I;
- Corte, Alessandro Della;
- Evangelista, Arturo;
- Maleszewski, Joseph J;
- Edwards, William D;
- Roman, Mary J;
- Devereux, Richard B;
- Fernández, Borja;
- Asch, Federico M;
- Barker, Alex J;
- Sierra-Galan, Lilia M;
- Kerchove, Laurent De;
- Fernandes, Susan M;
- Fedak, Paul W M;
- Girdauskas, Evaldas;
- Delgado, Victoria;
- Abbara, Suhny;
- Lansac, Emmanuel;
- Prakash, Siddharth K;
- Bissell, Malenka M
Publication type:
Article
International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.
Published in:
European Journal of Cardio-Thoracic Surgery, 2021, v. 60, n. 3, p. 448, doi. 10.1093/ejcts/ezab038
By:
- Michelena, Hector I;
- Corte, Alessandro Della;
- Evangelista, Arturo;
- Maleszewski, Joseph J;
- Edwards, William D;
- Roman, Mary J;
- Devereux, Richard B;
- Fernández, Borja;
- Asch, Federico M;
- Barker, Alex J;
- Sierra-Galan, Lilia M;
- Kerchove, Laurent De;
- Fernandes, Susan M;
- Fedak, Paul W M;
- Girdauskas, Evaldas;
- Delgado, Victoria;
- Abbara, Suhny;
- Lansac, Emmanuel;
- Prakash, Siddharth K;
- Bissell, Malenka M
Publication type:
Article
Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03120-1
By:
- Mansoorshahi, Sara;
- Scurlock, Cindy;
- Research Registry, Scientific Advisory Board of the Turner Syndrome Society of the United States;
- Prakash, Siddharth K
Publication type:
Article
Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting.
Published in:
European Journal of Endocrinology, 2024, v. 190, n. 6, p. G53, doi. 10.1093/ejendo/lvae050
By:
- Gravholt, Claus H;
- Andersen, Niels H;
- Christin-Maitre, Sophie;
- Davis, Shanlee M;
- Duijnhouwer, Anthonie;
- Gawlik, Aneta;
- Maciel-Guerra, Andrea T;
- Gutmark-Little, Iris;
- Fleischer, Kathrin;
- Hong, David;
- Klein, Karen O;
- Prakash, Siddharth K;
- Shankar, Roopa Kanakatti;
- Sandberg, David E;
- Sas, Theo C J;
- Skakkebæk, Anne;
- Stochholm, Kirstine;
- Velden, Janielle A van der;
- Group, The International Turner Syndrome Consensus;
- Backeljauw, Philippe F
Publication type:
Article
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Published in:
2016
By:
- Shao-Qing Kuang;
- Medina-Martinez, Olga;
- Dong-chuan Guo;
- Limin Gong;
- Regalado, Ellen S.;
- Reynolds, Corey L.;
- Boileau, Catherine;
- Jondeau, Guillaume;
- Prakash, Siddharth K.;
- Kwartler, Callie S.;
- Yang Zhu, Lawrence;
- Peters, Andrew M.;
- Xue-Yan Duan;
- Bamshad, Michael J.;
- Shendure, Jay;
- Nickerson, Debbie A.;
- Santos-Cortez, Regie L.;
- Xiurong Dong;
- Lea, Suzanne M.;
- Majesky, Mark W.
Publication type:
journal article
Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.
Published in:
Journal of the American Heart Association, 2023, v. 12, n. 19, p. 1, doi. 10.1161/JAHA.123.029518
By:
- Stephens, Sara B.;
- Shalhub, Sherene;
- Dodd, Nicholas;
- Li, Jesse;
- Huang, Michael;
- Seitaro Oda;
- Kancherla, Kalyan;
- Doan, Tam T.;
- Prakash, Siddharth K.;
- Weigand, Justin D.;
- Asch, Federico M.;
- Beecroft, Taylor;
- Cecchi, Alana;
- Shittu, Teniola;
- Preiss, Liliana;
- LeMaire, Scott A.;
- Devereux, Richard B.;
- Pyeritz, Reed E.;
- Holmes, Kathryn W.;
- Roman, Mary J.
Publication type:
Article
Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC).
Published in:
2016
By:
- Roman, Mary J.;
- Pugh, Norma L.;
- Hendershot, Tabitha P.;
- Devereux, Richard B.;
- Dietz, Hal;
- Holmes, Kathryn;
- Eagle, Kim A.;
- LeMaire, Scott A.;
- Milewicz, Dianna M.;
- Morris, Shaine A.;
- Pyeritz, Reed E.;
- Ravekes, William J.;
- Shohet, Ralph V.;
- Silberbach, Michael;
- Dietz, Harry C.;
- Habashi, Jennifer;
- Prakash, Siddharth K.;
- Maslen, Cheryl L.;
- Song, Howard K.;
- Bavaria, Joseph E.
Publication type:
journal article
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 15, p. 3345, doi. 10.1093/hmg/dds166
By:
- Dharmadhikari, Avinash V.;
- Kang, Sung-Hae L.;
- Szafranski, Przemyslaw;
- Person, Richard E.;
- Sampath, Srirangan;
- Prakash, Siddharth K.;
- Bader, Patricia I.;
- Phillips, John A.;
- Hannig, Vickie;
- Williams, Misti;
- Vinson, Sherry S.;
- Wilfong, Angus A.;
- Reimschisel, Tyler E.;
- Craigen, William J.;
- Patel, Ankita;
- Bi, Weimin;
- Lupski, James R.;
- Belmont, John;
- Cheung, Sau Wai;
- Stankiewicz, Pawel
Publication type:
Article
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078
By:
- Liu, Pengfei;
- Erez, Ayelet;
- Sreenath Nagamani, Sandesh C.;
- Bi, Weimin;
- Carvalho, Claudia M. B.;
- Simmons, Alexandra D.;
- Wiszniewska, Joanna;
- Fang, Ping;
- Eng, Patricia A.;
- Cooper, M. Lance;
- Sutton, V. Reid;
- Roeder, Elizabeth R.;
- Bodensteiner, John B.;
- Delgado, Mauricio R.;
- Prakash, Siddharth K.;
- Belmont, John W.;
- Stankiewicz, Pawel;
- Berg, Jonathan S.;
- Shinawi, Marwan;
- Patel, Ankita
Publication type:
Article
Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.
Published in:
Mammalian Genome, 2001, v. 12, n. 10, p. 796, doi. 10.1007/s00335-001-1006-5
By:
- Cormier, Trena A.;
- Prakash, Siddharth K.;
- Magner, Daniel B.;
- Zoghbi, Huda Y.;
- van den Veyver, Ignatia B.
Publication type:
Article
Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación.
Published in:
Archivos de Cardiología de México (English ed Internet), 2024, v. 94, n. 2, p. 219, doi. 10.24875/ACM.24000002
By:
- Michelena, Hector I.;
- della Corte, Alessandro;
- Evangelista, Arturo;
- Maleszewski, Joseph J.;
- Edwards, William D.;
- Roman, Mary J.;
- Devereux, Richard B.;
- Fernández, Borja;
- Asch, Federico M.;
- Barker, Alex J.;
- Sierra, Lilia M.;
- de Kerchove, Laurent;
- Fernandes, Susan M.;
- Fedak, Paul W. M.;
- Girdauskas, Evaldas;
- Delgado, Victoria;
- Abbara, Suhny;
- Lansac, Emmanuel;
- Prakash, Siddharth K.;
- Bissell, Malenka M.
Publication type:
Article
Misclassification of bicuspid aortic valves is common and varies by imaging modality and patient characteristics.
Published in:
Echocardiography, 2019, v. 36, n. 4, p. 761, doi. 10.1111/echo.14295
By:
- Cramer, Peyton M.;
- Prakash, Siddharth K.
Publication type:
Article
Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry.
Published in:
Congenital Heart Disease, 2017, v. 12, n. 6, p. 740, doi. 10.1111/chd.12520
By:
- Krepp, Joseph M.;
- Roman, Mary J.;
- Devereux, Richard B.;
- Bruce, Adrienne;
- Prakash, Siddharth K.;
- Morris, Shaine A.;
- Milewicz, Dianna M.;
- Holmes, Kathryn W.;
- Ravekes, William;
- Shohet, Ralph V.;
- Pyeritz, Reed E.;
- Maslen, Cheryl L.;
- Kroner, Barbara L.;
- Eagle, Kim A.;
- Preiss, Liliana;
- Asch, Federico M.
Publication type:
Article
Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections.
Published in:
PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002118
By:
- Shao-Qing Kuang;
- Dong-Chuan Guo;
- Prakash, Siddharth K.;
- McDonald, Merry-Lynn N.;
- Johnson, Ralph J.;
- Min Wang;
- Regalado, Ellen S.;
- Russell, Ludivine;
- Jiu-Mei Cao;
- Kwartler, Callie;
- Fraivillig, Kurt;
- Coselli, Joseph S.;
- Safi, Hazim J.;
- Estrera, Anthony L.;
- Leal, Suzanne M.;
- LeMaire, Scott A.;
- Belmont, John W.;
- Milewicz, Dianna M.
Publication type:
Article
Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant micro-phthalmia with linear skin defects (MLS) syndrome.
Published in:
Human Molecular Genetics, 2002, v. 11, n. 25, p. 3237, doi. 10.1093/hmg/11.25.3237
By:
- Prakash, Siddharth K.;
- Cormier, Trena A.;
- McCall, Alanna E.;
- Garcia, Jesus J.;
- Sierra, Rebecca;
- Haupt, Bisong;
- Zoghbi, Huda Y.;
- Van den Veyver, Ignatia B.
Publication type:
Article
Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.
Published in:
Human Molecular Genetics, 2000, v. 9, n. 4, p. 477, doi. 10.1093/hmg/9.4.477
By:
- Prakash, Siddharth K.;
- Paylor, Richard;
- Jenna, Sarah;
- Lamarche-Vane, Nathalie;
- Armstrong, Dawna L.;
- Xu, Bisong;
- Mancini, Michael A.;
- Zoghbi, Huda Y.
Publication type:
Article
Risk Factors for Thoracic Aortic Dissection.
Published in:
Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101814
By:
- Zhou, Zhen;
- Cecchi, Alana C.;
- Prakash, Siddharth K.;
- Milewicz, Dianna M.
Publication type:
Article
Hidden Y Chromosome Material and Congenital Cardiovascular Malformations in a Cohort of Turner Syndrome Patients with 45,X Blood Karyotype.
Published in:
Cytogenetic & Genome Research, 2024, v. 163, n. 5/6, p. 290, doi. 10.1159/000535771
By:
- Udo, Emediong Q.;
- Truly, Tate;
- Peters, Andrew;
- Prakash, Siddharth K.;
- Rivera, Michelle;
- Rodriguez-Buritica, David Felipe
Publication type:
Article
An unusual cause of acute pericarditis: a case report.
Published in:
2021
By:
- Salarda, Erika M;
- Ocazionez-Trujillo, Daniel;
- Prakash, Siddharth K
Publication type:
Case Study
Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación.
Published in:
Archivos de Cardiología de México, 2024, v. 94, n. 2, p. 219, doi. 10.24875/ACM.24000002
By:
- Michelena, Hector I.;
- della Corte, Alessandro;
- Evangelista, Arturo;
- Maleszewski, Joseph J.;
- Edwards, William D.;
- Roman, Mary J.;
- Devereux, Richard B.;
- Fernández, Borja;
- Asch, Federico M.;
- Barker, Alex J.;
- Sierra, Lilia M.;
- de Kerchove, Laurent;
- Fernandes, Susan M.;
- Fedak, Paul W. M.;
- Girdauskas, Evaldas;
- Delgado, Victoria;
- Abbara, Suhny;
- Lansac, Emmanuel;
- Prakash, Siddharth K.;
- Bissell, Malenka M.
Publication type:
Article

Found: 35