Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Jeffries, Aaron R; Maroofian, Reza; Salter, Claire G; Chioza, Barry A; Cross, Harold E; Patton, Michael A; Dempster, Emma; Temple, I Karen; Mackay, Deborah J G; Rezwan, Faisal I; Aksglaede, Lise; Baralle, Diana; Dabir, Tabib; Hunter, Matthew F; Kamath, Arveen; Kumar, Ajith; Newbury-Ecob, Ruth; Selicorni, Angelo; Springer, Amanda; Van Maldergem, Lionel; Varghese, Vinod; Yachelevich, Naomi; Tatton-Brown, Katrina; Mill, Jonathan; Crosby, Andrew H; Baple, Emma L.

Genome Res ; 29(7): 1057-1066, 2019 07.

Artigo em Inglês | MEDLINE | ID: mdl-31160375

2.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Hardcastle, Amy; Berry, Aliska M; Campbell, Ian M; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E; Rosenfeld, Jill A; Sisoudiya, Saumya D; Hernandez-Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L; Capolino, Rossella; Digilio, Maria C; Graziani, Ludovico; Rustad, Cecilie F; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Di Gregorio, Eleonora; Wellesley, Diana; Beneteau, Claire; Joubert, Madeleine; Van Den Bogaert, Kris; Boogaerts, Anneleen; McMullan, Dominic J; Dean, John; Giuffrida, Maria G; Bernardini, Laura; Varghese, Vinod; Shannon, Nora L; Harrison, Rachel E; Lam, Wayne W K; McKee, Shane; Turnpenny, Peter D; Cole, Trevor; Morton, Jenny; Eason, Jacqueline; Jones, Marilyn C; Hall, Rebecca; Wright, Michael; Horridge, Karen; Shaw, Chad A; Chung, Wendy K; Scott, Daryl A.

Am J Med Genet A ; 188(10): 2958-2968, 2022 10.

Artigo em Inglês | MEDLINE | ID: mdl-35904974

3.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frédéric; Toutain, Annick; Bonnet-Brilhault, Frédérique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G; Chung, Wendy K; Devriendt, Koenraad; Holder, Susan E; Jewett, Tamison; Baldwin, Lauren M; Wilson, William G; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sébastien; Sullivan, Jennifer A; Shashi, Vandana; Koudijs, Suzanne M; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.

Genet Med ; 23(2): 352-362, 2021 02.

Artigo em Inglês | MEDLINE | ID: mdl-33106617

4.

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.

Thomas, Huw B; Wood, Katherine A; Buczek, Weronika A; Gordon, Christopher T; Pingault, Véronique; Attié-Bitach, Tania; Hentges, Kathryn E; Varghese, Vinod C; Amiel, Jeanne; Newman, William G; O'Keefe, Raymond T.

Hum Mutat ; 41(8): 1372-1382, 2020 08.

Artigo em Inglês | MEDLINE | ID: mdl-32333448

5.

A clinical scoring system for congenital contractural arachnodactyly.

Meerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M; Breckpot, Jeroen; de Burca, Anna; Destrée, Anne; García-Miñaúr, Sixto; Green, Andrew J; Hanna, Bernadette C; Keymolen, Kathelijn; Koopmans, Marije; Lederer, Damien; Lees, Melissa; Longman, Cheryl; Lynch, Sally Ann; Male, Alison M; McKenzie, Fiona; Migeotte, Isabelle; Mihci, Ercan; Nur, Banu; Petit, Florence; Piard, Juliette; Plasschaert, Frank S; Rauch, Anita; Ribaï, Pascale; Pacheco, Iratxe Salcedo; Stanzial, Franco; Stolte-Dijkstra, Irene; Valenzuela, Irene; Varghese, Vinod; Vasudevan, Pradeep C; Wakeling, Emma; Wallgren-Pettersson, Carina; Coucke, Paul; De Paepe, Anne; De Wolf, Daniël; Symoens, Sofie; Callewaert, Bert.

Genet Med ; 22(1): 124-131, 2020 01.

Artigo em Inglês | MEDLINE | ID: mdl-31316167

6.

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Durkin, Anna; Albaba, Shadi; Fry, Andrew E; Morton, Jenny E; Douglas, Andrew; Beleza, Ana; Williams, Denise; Volker-Touw, Catharina M L; Lynch, Sally A; Canham, Natalie; Clowes, Virginia; Straub, Volker; Lachlan, Katherine; Gibbon, Frances; El Gamal, Mayy; Varghese, Vinod; Parker, Michael J; Newbury-Ecob, Ruth; Turnpenny, Peter D; Gardham, Alice; Ghali, Neeti; Balasubramanian, Meena.

Am J Med Genet A ; 182(7): 1637-1654, 2020 07.

Artigo em Inglês | MEDLINE | ID: mdl-32319732

7.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Stals, Karen L; Wakeling, Matthew; Baptista, Júlia; Caswell, Richard; Parrish, Andrew; Rankin, Julia; Tysoe, Carolyn; Jones, Garan; Gunning, Adam C; Lango Allen, Hana; Bradley, Lisa; Brady, Angela F; Carley, Helena; Carmichael, Jenny; Castle, Bruce; Cilliers, Deirdre; Cox, Helen; Deshpande, Charu; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Fry, Andrew E; Fryer, Alan; Holder, Muriel; Homfray, Tessa; Kivuva, Emma; McKay, Victoria; Newbury-Ecob, Ruth; Parker, Michael; Savarirayan, Ravi; Searle, Claire; Shannon, Nora; Shears, Deborah; Smithson, Sarah; Thomas, Ellen; Turnpenny, Peter D; Varghese, Vinod; Vasudevan, Pradeep; Wakeling, Emma; Baple, Emma L; Ellard, Sian.

Prenat Diagn ; 38(1): 33-43, 2018 01.

Artigo em Inglês | MEDLINE | ID: mdl-29096039

8.

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.

Pacot, Laurence; Girish, Milind; Knight, Samantha; Spurlock, Gill; Varghese, Vinod; Ye, Manuela; Thomas, Nick; Pasmant, Eric; Upadhyaya, Meena.

BMC Med Genomics ; 17(1): 73, 2024 Mar 06.

Artigo em Inglês | MEDLINE | ID: mdl-38448973

9.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini, Francesco; McKee, Shane; Rosenfeld, Jill A; Suri, Mohnish; Lewis, Andrea M; Nugent, Kimberly Margaret; Roeder, Elizabeth; Littlejohn, Rebecca O; Holder, Sue; Zhu, Wenmiao; Alaimo, Joseph T; Graham, Brett; Harris, Jill M; Gibson, James B; Pastore, Matthew; McBride, Kim L; Komara, Makanko; Al-Gazali, Lihadh; Al Shamsi, Aisha; Fanning, Elizabeth A; Wierenga, Klaas J; Scott, Daryl A; Ben-Neriah, Ziva; Meiner, Vardiella; Cassuto, Hanoch; Elpeleg, Orly; Lloyd Holder, J; Burrage, Lindsay C; Seaver, Laurie H; Van Maldergem, Lionel; Mahida, Sonal; Soul, Janet S; Marlatt, Margaret; Matyakhina, Ludmila; Vogt, Julie; Gold, June-Anne; Park, Soo-Mi; Varghese, Vinod; Lampe, Anne K; Kumar, Ajith; Lees, Melissa; Holder-Espinasse, Muriel; McConnell, Vivienne; Bernhard, Birgitta; Blair, Ed; Harrison, Victoria; Muzny, Donna M; Gibbs, Richard A; Elsea, Sarah H; Posey, Jennifer E.

Genome Med ; 11(1): 16, 2019 03 25.

Artigo em Inglês | MEDLINE | ID: mdl-30909959

10.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Vetrini, Francesco; McKee, Shane; Rosenfeld, Jill A; Suri, Mohnish; Lewis, Andrea M; Nugent, Kimberly Margaret; Roeder, Elizabeth; Littlejohn, Rebecca O; Holder, Sue; Zhu, Wenmiao; Alaimo, Joseph T; Graham, Brett; Harris, Jill M; Gibson, James B; Pastore, Matthew; McBride, Kim L; Komara, Makanko; Al-Gazali, Lihadh; Al Shamsi, Aisha; Fanning, Elizabeth A; Wierenga, Klaas J; Scott, Daryl A; Ben-Neriah, Ziva; Meiner, Vardiella; Cassuto, Hanoch; Elpeleg, Orly; Holder, J Lloyd; Burrage, Lindsay C; Seaver, Laurie H; Van Maldergem, Lionel; Mahida, Sonal; Soul, Janet S; Marlatt, Margaret; Matyakhina, Ludmila; Vogt, Julie; Gold, June-Anne; Park, Soo-Mi; Varghese, Vinod; Lampe, Anne K; Kumar, Ajith; Lees, Melissa; Holder-Espinasse, Muriel; McConnell, Vivienne; Bernhard, Birgitta; Blair, Ed; Harrison, Victoria; Muzny, Donna M; Gibbs, Richard A; Elsea, Sarah H; Posey, Jennifer E.

Genome Med ; 11(1): 12, 2019 02 28.

Artigo em Inglês | MEDLINE | ID: mdl-30819258

11.

Internal jugular, subclavian and brachiocephalic vein thrombosis associated with cerebral venous sinus thrombosis.

Kulkarni, Girish Baburao; Mustare, Veerendrakumar; Varghese, Vinod.

Neurol India ; 61(5): 526, 2013.

Artigo em Inglês | MEDLINE | ID: mdl-24262458

12.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown, Katrina; Zachariou, Anna; Loveday, Chey; Renwick, Anthony; Mahamdallie, Shazia; Aksglaede, Lise; Baralle, Diana; Barge-Schaapveld, Daniela; Blyth, Moira; Bouma, Mieke; Breckpot, Jeroen; Crabb, Beau; Dabir, Tabib; Cormier-Daire, Valerie; Fauth, Christine; Fisher, Richard; Gener, Blanca; Goudie, David; Homfray, Tessa; Hunter, Matthew; Jorgensen, Agnete; Kant, Sarina G; Kirally-Borri, Cathy; Koolen, David; Kumar, Ajith; Labilloy, Anatalia; Lees, Melissa; Marcelis, Carlo; Mercer, Catherine; Mignot, Cyril; Miller, Kathryn; Neas, Katherine; Newbury-Ecob, Ruth; Pilz, Daniela T; Posmyk, Renata; Prada, Carlos; Ramsey, Keri; Randolph, Linda M; Selicorni, Angelo; Shears, Deborah; Suri, Mohnish; Temple, I Karen; Turnpenny, Peter; Val Maldergem, Lionel; Varghese, Vinod; Veenstra-Knol, Hermine E; Yachelevich, Naomi; Yates, Laura; Rahman, Nazneen.

Wellcome Open Res ; 3: 46, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29900417

13.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Gordon, Christopher T; Xue, Shifeng; Yigit, Gökhan; Filali, Hicham; Chen, Kelan; Rosin, Nadine; Yoshiura, Koh-Ichiro; Oufadem, Myriam; Beck, Tamara J; McGowan, Ruth; Magee, Alex C; Altmüller, Janine; Dion, Camille; Thiele, Holger; Gurzau, Alexandra D; Nürnberg, Peter; Meschede, Dieter; Mühlbauer, Wolfgang; Okamoto, Nobuhiko; Varghese, Vinod; Irving, Rachel; Sigaudy, Sabine; Williams, Denise; Ahmed, S Faisal; Bonnard, Carine; Kong, Mung Kei; Ratbi, Ilham; Fejjal, Nawfal; Fikri, Meriem; Elalaoui, Siham Chafai; Reigstad, Hallvard; Bole-Feysot, Christine; Nitschké, Patrick; Ragge, Nicola; Lévy, Nicolas; Tunçbilek, Gökhan; Teo, Audrey S M; Cunningham, Michael L; Sefiani, Abdelaziz; Kayserili, Hülya; Murphy, James M; Chatdokmaiprai, Chalermpong; Hillmer, Axel M; Wattanasirichaigoon, Duangrurdee; Lyonnet, Stanislas; Magdinier, Frédérique; Javed, Asif; Blewitt, Marnie E; Amiel, Jeanne; Wollnik, Bernd.

Nat Genet ; 49(2): 249-255, 2017 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-28067911

14.

Factors Determining Cognitive Dysfunction in Cerebral Small Vessel Disease.

Varghese, Vinod; Chandra, Sadanandavalli Retnaswami; Christopher, Rita; Rajeswaran, Jamuna; Prasad, Chandrajit; Subasree, Ramakrishnan; Issac, Thomas Gregor.

Indian J Psychol Med ; 38(1): 56-61, 2016.

Artigo em Inglês | MEDLINE | ID: mdl-27011404

15.

Cognitive Dysfunction and its Determinants in Patients with Neurocysticercosis.

Varghese, Vinod; Chandra, Sadanandavalli Retnaswami; Christopher, Rita; Rajeswaran, Jamuna; Prasad, Chandrajit; Subasree, R; Issac, Thomas Gregor.

Indian J Psychol Med ; 38(2): 142-6, 2016.

Artigo em Inglês | MEDLINE | ID: mdl-27114627

16.

Penile duplication.

Varghese, Vinod Cherian; Sukumaran, T U.

Indian Pediatr ; 41(11): 1166, 2004 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-15591671

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