Results 71 to 80 of about 2,574,835 (312)

Herlyn Werner Wunderlich Syndrome with Hematocolpos Symptom [PDF]

, 2019
BACKGROUND: Uterodidelphys with obstructed hemivagina and ipsilateral renal agenesis is referred to as the Herlyn Werner Wunderlich (HWW) syndrome.
Rambe, Andrina Yunita Murni, Rusda, Muhammad, Umara, Amru   +2 more
core   +2 more sources

Neuronal α‐Synuclein Disease Stage Progression over 5 Years

Movement Disorders, EarlyView.
Abstract Background Neuronal α‐synuclein disease (NSD) is defined by the presence of an in vivo biomarker of neuronal alpha‐synuclein (n‐asyn) pathology. The NSD integrated staging system (NSD‐ISS) for research describes progression across the disease continuum as stages 0 to 6.
Tanya Simuni, Caroline Gochanour, Anuprita R. Nair, Michael C. Brumm, Christopher Coffey, Kathleen L. Poston, Lana M. Chahine, Daniel Weintraub, Caroline M. Tanner, Paulina Gonzalez‐Latapi, Catherine M. Kopil, Yuge Xiao, Sohini Chowdhury, Tien Dam, Gennaro Pagano, Diane Stephenson, Andrew Siderowf, Billy Dunn, Kenneth Marek, on behalf of the NSD Working Group the Parkinson's Progression Markers Initiative, Kenneth Marek, Caroline Tanner, Tanya Simuni, Andrew Siderowf, Douglas Galasko, Lana Chahine, Christopher Coffey, Kalpana Merchant, Kathleen Poston, Roseanne Dobkin, Tatiana Foroud, Brit Mollenhauer, Dan Weintraub, Ethan Brown, Karl Kieburtz, Mark Frasier, Todd Sherer, Sohini Chowdhury, Roy Alcalay, Aleksandar Videnovic, Duygu Tosun‐Turgut, Werner Poewe, Susan Bressman, Jan Hammer, Raymond James, Ekemini Riley, John Seibyl, Leslie Shaw, David Standaert, Sneha Mantri, Nabila Dahodwala, Michael Schwarzschild, Connie Marras, Hubert Fernandez, Ira Shoulson, Helen Rowbotham, Paola Casalin, Claudia Trenkwalder, Todd Sherer, Sohini Chowdhury, Mark Frasier, Jamie Eberling, Katie Kopil, Alyssa O'Grady, Maggie McGuire Kuhl, Leslie Kirsch, Tawny Willson, Emily Flagg, Tanya Simuni, Bridget McMahon, Craig Stanley, Kim Fabrizio, Dixie Ecklund, Trevis Huff, Tatiana Foroud, Laura Heathers, Christopher Hobbick, Gena Antonopoulos, John Seibyl, Kathleen Poston, Christopher Coffey, Chelsea Caspell‐Garcia, Michael Brumm, Brit Mollenhauer, Doug Galasko, Kalpana Merchant, Andrew Singleton, Tatiana Foroud, Thomas Montine, Caroline Tanner, Carlie Tanner, Ethan Brown, Lana Chahine, Roseann Dobkin, Monica Korell, Charles Adler, Roy Alcalay, Amy Amara, Paolo Barone, Bastiaan Bloem Susan Bressman, Kathrin Brockmann, Norbert Brüggemann, Lana Chahine, Kelvin Chou, Nabila Dahodwala, Alberto Espay, Stewart Factor, Hubert Fernandez, Michelle Fullard, Douglas Galasko, Robert Hauser, Penelope Hogarth, Shu‐Ching Hu, Michele Hu, Stuart Isaacson, Christine Klein, Rejko Krueger, Mark Lew, Zoltan Mari, Connie Marras, Maria Jose Martí, Nikolaus McFarland, Tiago Mestre, Brit Mollenhauer, Emile Moukheiber, Alastair Noyce, Wolfgang Oertel, Njideka Okubadejo, Sarah O'Shea, Rajesh Pahwa, Nicola Pavese, Werner Poewe, Ron Postuma, Giulietta Riboldi, Lauren Ruffrage, Javier Ruiz Martinez, David Russell, Marie H. Saint‐Hilaire, Neil Santos, Wesley Schlett, Ruth Schneider, Holly Shill, David Shprecher, Tanya Simuni, David Standaert, Leonidas Stefanis, Yen Tai, Caroline Tanner, Arjun Tarakad, Eduardo Tolosa, Aleksandar Videnovic, Susan Ainscough, Courtney Blair, Erica Botting, Isabella Chung, Kelly Clark, Ioana Croitoru, Kelly DeLano, Iris Egner, Fahrial Esha, May Eshel, Frank Ferrari, Victoria Kate Foster, Alicia Garrido, Madita Grümmer, Bethzaida Herrera, Ella Hilt, Chloe Huntzinger, Raymond James, Farah Kausar, Christos Koros, Yara Krasowski, Dustin Le, Ying Liu, Taina M. Marques, Helen Mejia Santana, Sherri Mosovsky, Jennifer Mule, Philip Ng, Lauren O'Brien, Abiola Ogunleye, Oluwadamilola Ojo, Obi Onyinanya, Lisbeth Pennente, Romina Perrotti, Michael Pileggi, Ashwini Ramachandran, Deborah Raymond, Jamil Razzaque, Shawna Reddie, Kori Ribb, Kyle Rizer, Janelle Rodriguez, Stephanie Roman, Clarissa Sanchez, Cristina Simonet, Anisha Singh, Elisabeth Sittig, Barbara Sommerfeld, Angela Stovall, Bobbie Stubbeman, Alejandra Valenzuela, Catherine Wandell, Diana Willeke, Karen Williams, Dilinuer Wubuli   +205 more
wiley   +1 more source

Urological anomalies in OHVIRA syndrome (Herlyn-Werner-Wunderlich syndrome)

Вестник урологии, 2022
We provide a systematic review of articles related to OHVIRA syndrome (Herlyn-Werner-Wunderlich syndrome), found in PubMed/MedLine, Web of Science, Scopus, Scirus, The Cochrane Library and eLIBRARy to show how the urological component of this congenital ...
K. Lodeikina, I. M. Kagantsov, S. A. Karavaeva, N. A. Kokhreidze   +3 more
doaj   +1 more source

Targeting Histone H3K9 Methyltransferase G9a as a Potential Therapeutic Strategy for Neuropsychiatric Disorders

Medicinal Research Reviews, EarlyView.
ABSTRACT Neuropsychiatric disorders present a multifaceted challenge, characterized by cognitive, social, and motor impairments with manifold underlying mechanisms. Recent attention has turned to epigenetic mechanisms, particularly histone lysine methyltransferases (HKMTs), such as G9a, in understanding fundamental pathogenesis.
Malak Hajar, Tobias Werner, Mihajlo Gajic, Holger Stark, Bassem Sadek   +4 more
wiley   +1 more source

Evaluating the Role of p38 MAPK in the Accelerated Cell Senescence of Werner Syndrome Fibroblasts

Pharmaceuticals, 2016
Progeroid syndromes show features of accelerated ageing and are used as models for human ageing, of which Werner syndrome (WS) is one of the most widely studied.

semanticscholar   +1 more source

Patient with Herlyn–Werner–Wunderlich syndrome and endometriosis achieves successful full-term pregnancy (40 weeks and 6 days): a case report

Journal of Medical Case Reports
Introduction Herlyn–Werner–Wunderlich syndrome , a rare Müllerian ducts congenital disease, is characterized by a diphtheritic uterus, blind hemivagina, and ipsilateral renal agenesis.
Juliana Vieira Queiroz Almeida Oliveira, Chris Elizabeth Philip, Thayná Andreza Ribeiro Pereira, Gabriela Martins Perez Garcia, Quésia Tamara Mirante Ferreira Villamil   +4 more
doaj   +1 more source

Mutations Involved in Premature-Ageing Syndromes

The Application of Clinical Genetics, 2021
Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Fabio CoppedèDepartment of Translational Research and of New Surgical and Medical Technologies ...
Coppedè F
doaj  

The prodrome of autism: early behavioral and biological signs, regression, peri- and post-natal development and genetics [PDF]

, 2010
Autism is one of the most heritable neurodevelopmental conditions and has an early onset, with symptoms being required to be present in the first 3 years of life in order to meet criteria for the ‘core’ disorder in the classification systems.
Abrahams, Achenbach, Adolphs, Adrien, Adrien, American Academy of Pediatrics, American Psychiatric Association, American Psychiatric Association, Arking, Aylward, Aylward, Bailey, Baird, Baird, Baird, Bakermans-Kranenburg, Bakkaloglu, Baranek, Baranek, Barnabei, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Bello, Bluhm, Bolton, Bota, Brian, Bryson, Bryson, Butler, Buxbaum, Carroll, Casey, Caspi, Caspi, Castellanos, Centers for Disease Control and Prevention (CDC), Chang, Charman, Chawarska, Clifford, Clifford, Colgan, Courchesne, Courchesne, Croen, Dalton, Davidovitch, Davidovitch, Dawson, Dawson, Dawson, De Giacomo, Dementieva, Dietz, Durand, Eaton, Elder, Elsabbagh, Elsabbagh, Esposito, Faraone, Feuk, Folstein, Fombonne, Fombonne, Freitag, Fukumoto, Gamliel, Gardner, Geschwind, Geschwind, Gicquel, Gillberg, Glasson, Goffin, Goldberg, Greenough, Gupta, Hack, Hagerman, Hales, Hansen, Hazlett, Herman, Hogart, Horike, Hultman, Hurley, Jamain, Jiang, Johnson, Johnson, Just, Just, Kana, Kim, Kinney, Kleinman, Kolevzon, Koshino, Krug, Kuban, Kurita, Lainhart, Landa, Landa, Larsson, Laumonnier, Lauritsen, Levitt, Limperopoulos, Lingam, Loh, Lord, Lord, Lord, Losche, Lotter, Luyster, Maestro, Maestro, Maestro, Maestro, Maimburg, Mandell, Mars, Marshall, McCleery, McCleery, McGill, Merin, Minshew, Mitchell, Moessner, Mosconi, Muhle, Mullen, Mundy, Mundy, Nadig, Orrico, Osterling, Osterling, Ozonoff, Ozonoff, Ozonoff, Ozonoff, Ozonoff, Park, Phagava, Pickles, Piven, Redcay, Reich, Reichenberg, Reznick, Richler, Risch, Risch, Robins, Robinson, Rogers, Rogers, Roohi, Rutter, Rutter, Samaco, Schendel, Schopler, Schubert, Schultz, Sebat, Seidman, Shinnar, Sigman, Siperstein, Sparks, Steffenburg, Sullivan, Szatmari, Torrey, Tuchman, Van Daalen, Volkmar, Vorstman, Wang, Wang, Wang, Watson, Weaver, Webb, Weiss, Werner, Werner, Werner, Wetherby, Wetherby, Wetherby, Willemsen-Swinkels, Williams, Woodhouse, World Health Organization., World Health Organization., Yan, Yan, Yirmiya, Yirmiya, Yoder, Young, Zhao, Zwaigenbaum, Zwaigenbaum, Zwaigenbaum, Zwaigenbaum   +218 more
core   +2 more sources

Age‐Dependent Correlation of Pulmonary Function Impairment and Aortic Arch Stiffness in Mice

Pediatric Discovery, EarlyView.
This study examined the relationship between aortic arch stiffness and lung function in aging mice. Multiple linear regression modeling showed moderate to strong correlations between the rise in aortic arch stiffness and changes in lung function as the mice progressively aged.
Ayman Isbatan, Samuel M. Lee, Ali Imran Sarwar, Yuxing Yuan, Sunny Chen, Maricela Castellon, Dan A. Marian, Richard D. Minshall, Jie Tian, Irena Levitan, Jiwang Chen   +10 more
wiley   +1 more source

Werner syndrome: quantitative assessment of skin aging

Clinical, Cosmetic and Investigational Dermatology, 2018
Background Werner syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging in adults. Although not sufficient to diagnose WS, persistent short stature and alteration of the dentition are among the few early signs that appear ...
V. Mazzarello, Marco Ferrari, P. Ena
semanticscholar   +1 more source