Pesquisa | BVS IEC

1.

RAS Proteins and Their Regulators in Human Disease.

Simanshu, Dhirendra K; Nissley, Dwight V; McCormick, Frank.

Cell ; 170(1): 17-33, 2017 Jun 29.

Artigo em Inglês | MEDLINE | ID: mdl-28666118

2.

Wnt/ß-Catenin Signaling, Disease, and Emerging Therapeutic Modalities.

Nusse, Roel; Clevers, Hans.

Cell ; 169(6): 985-999, 2017 Jun 01.

Artigo em Inglês | MEDLINE | ID: mdl-28575679

3.

Mutation in folate metabolism causes epigenetic instability and transgenerational effects on development.

Padmanabhan, Nisha; Jia, Dongxin; Geary-Joo, Colleen; Wu, Xuchu; Ferguson-Smith, Anne C; Fung, Ernest; Bieda, Mark C; Snyder, Floyd F; Gravel, Roy A; Cross, James C; Watson, Erica D.

Cell ; 155(1): 81-93, 2013 Sep 26.

Artigo em Inglês | MEDLINE | ID: mdl-24074862

4.

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Nil, Zelha; Deshwar, Ashish R; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Le Quesne Stabej, Polona; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vøllo, Arve; Haynes, Devon; Wheeler, Patricia G; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.

Am J Hum Genet ; 110(11): 1919-1937, 2023 11 02.

Artigo em Inglês | MEDLINE | ID: mdl-37827158

5.

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.

Wright, Caroline F; Campbell, Patrick; Eberhardt, Ruth Y; Aitken, Stuart; Perrett, Daniel; Brent, Simon; Danecek, Petr; Gardner, Eugene J; Chundru, V Kartik; Lindsay, Sarah J; Andrews, Katrina; Hampstead, Juliet; Kaplanis, Joanna; Samocha, Kaitlin E; Middleton, Anna; Foreman, Julia; Hobson, Rachel J; Parker, Michael J; Martin, Hilary C; FitzPatrick, David R; Hurles, Matthew E; Firth, Helen V.

N Engl J Med ; 388(17): 1559-1571, 2023 Apr 27.

Artigo em Inglês | MEDLINE | ID: mdl-37043637

6.

Gli proteins in development and disease.

Hui, Chi-Chung; Angers, Stephane.

Annu Rev Cell Dev Biol ; 27: 513-37, 2011.

Artigo em Inglês | MEDLINE | ID: mdl-21801010

7.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

Chen, Na; Zhao, Sen; Jolly, Angad; Wang, Lianlei; Pan, Hongxin; Yuan, Jian; Chen, Shaoke; Koch, André; Ma, Congcong; Tian, Weijie; Jia, Ziqi; Kang, Jia; Zhao, Lina; Qin, Chenglu; Fan, Xin; Rall, Katharina; Coban-Akdemir, Zeynep; Chen, Zefu; Jhangiani, Shalini; Liang, Ze; Niu, Yuchen; Li, Xiaoxin; Yan, Zihui; Wu, Yong; Dong, Shuangshuang; Song, Chengcheng; Qiu, Guixing; Zhang, Shuyang; Liu, Pengfei; Posey, Jennifer E; Zhang, Feng; Luo, Guangnan; Wu, Zhihong; Su, Jianzhong; Zhang, Jianguo; Chen, Eugenia Y; Rouskas, Konstantinos; Glentis, Stavros; Bacopoulou, Flora; Deligeoroglou, Efthymios; Chrousos, George; Lyonnet, Stanislas; Polak, Michel; Rosenberg, Carla; Dingeldein, Irene; Bonilla, Ximena; Borel, Christelle; Gibbs, Richard A; Dietrich, Jennifer E; Dimas, Antigone S.

Am J Hum Genet ; 108(2): 337-345, 2021 02 04.

Artigo em Inglês | MEDLINE | ID: mdl-33434492

8.

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

Chai, Guoliang; Szenker-Ravi, Emmanuelle; Chung, Changuk; Li, Zhen; Wang, Lu; Khatoo, Muznah; Marshall, Trevor; Jiang, Nan; Yang, Xiaoxu; McEvoy-Venneri, Jennifer; Stanley, Valentina; Anzenberg, Paula; Lang, Nhi; Wazny, Vanessa; Yu, Jia; Virshup, David M; Nygaard, Rie; Mancia, Filippo; Merdzanic, Rijad; Toralles, Maria B P; Pitanga, Paula M L; Puri, Ratna D; Hernan, Rebecca; Chung, Wendy K; Bertoli-Avella, Aida M; Al-Sannaa, Nouriya; Zaki, Maha S; Willert, Karl; Reversade, Bruno; Gleeson, Joseph G.

N Engl J Med ; 385(14): 1292-1301, 2021 09 30.

Artigo em Inglês | MEDLINE | ID: mdl-34587386

9.

Preventive Practices and Knowledge of Human Papillomavirus in Mayer-Rokitansky-Küster-Hauser Syndrome Individuals.

Shim, Jessica Y; Boskey, Elizabeth R; Lossie, Amy; Staffa, Steven J; Grimstad, Frances W.

Sex Transm Dis ; 51(2): 128-131, 2024 Feb 01.

Artigo em Inglês | MEDLINE | ID: mdl-37934163

10.

Association of maternal cancer with congenital anomalies in offspring.

Auger, Nathalie; Maniraho, Amanda; Ayoub, Aimina; Arbour, Laura.

Paediatr Perinat Epidemiol ; 38(2): 121-129, 2024 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-38112586

11.

The genetic etiologies of bilateral renal agenesis.

Kirschen, Gregory W; Blakemore, Karin; Al-Kouatly, Huda B; Fridkis, Gila; Baschat, Ahmet; Gearhart, John; Jelin, Angie C.

Prenat Diagn ; 44(2): 205-221, 2024 02.

Artigo em Inglês | MEDLINE | ID: mdl-38180355

12.

Wharton-Sheares-George vaginoplasty: a safe and efficient technique in patients with Mayer-Rokitansky-Küster-Hauser syndrome.

Rhazi, Inas; Lukanovic, David; Blaganje, Mija; Deval, Bruno.

Int Urogynecol J ; 35(2): 467-470, 2024 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-37823899

13.

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China.

Zhou, Xu; Li, Ting; Kuang, Haiyan; Zhou, Ying; Xie, Donghua; He, Jian; Xiao, Juan; Chen, Chanchan; Jiang, Yurong; Fang, Junqun; Wang, Hua.

BMC Pregnancy Childbirth ; 24(1): 216, 2024 Mar 23.

Artigo em Inglês | MEDLINE | ID: mdl-38521899

14.

Anxiety, depression, somatization and psychological distress before and 2-6 years after a late termination of pregnancy due to fetal anomalies.

Irmscher, Lisa; Marx, Romy; Linke, Maike; Zimmermann, Anja; Drössler, Stephanie; Berth, Hendrik.

BMC Womens Health ; 24(1): 255, 2024 Apr 24.

Artigo em Inglês | MEDLINE | ID: mdl-38658921

15.

Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data.

Zhou, Xu; He, Jian; Wang, Aihua; Hua, Xinjun; Li, Ting; Shu, Chuqiang; Fang, Junqun.

BMC Public Health ; 24(1): 1037, 2024 Apr 15.

Artigo em Inglês | MEDLINE | ID: mdl-38622560

16.

Long-term Results of Sexual Function and Body Image After Vaginoplasty With Acellular Dermal Matrix in Women With Mayer-Rokitansky-Küster-Hauser Syndrome.

Mao, Meng; Zhang, Ye; Fu, Hanlin; Wang, Qian; Bai, Jing; Guo, Ruixia.

J Minim Invasive Gynecol ; 31(1): 37-42, 2024 01.

Artigo em Inglês | MEDLINE | ID: mdl-37820829

17.

Higher risk of cerebral palsy, seizures/epilepsy, visual- and hearing impairments, cancer, injury and child abuse in children with congenital anomalies: Data from the EUROlinkCAT study.

Urhoj, Stine Kjaer; Morris, Joan; Loane, Maria; Ballardini, Elisa; Barrachina-Bonet, Laia; Cavero-Carbonell, Clara; Coi, Alessio; Gissler, Mika; Given, Joanne; Heino, Anna; Jordan, Sue; Neville, Amanda; Santoro, Michele; Tan, Joachim; Tucker, David; Wellesley, Diana; Garne, Ester; Damkjaer, Mads.

Acta Paediatr ; 113(5): 1024-1031, 2024 May.

Artigo em Inglês | MEDLINE | ID: mdl-38324400

18.

Neovagina creation methods in Müllerian anomalies and risk of malignancy: insights from a systematic review.

Fedele, Francesco; Bulfoni, Alessandro; Parazzini, Fabio; Busnelli, Andrea.

Arch Gynecol Obstet ; 309(3): 801-812, 2024 03.

Artigo em Inglês | MEDLINE | ID: mdl-37466686

19.

Fraser syndrome with limb reduction defect: a rare and unique anatomic variation.

Mangla, Mishu; Kaliappan, Ariyanachi; Srirambhatla, Annapurna; Chandrupatla, Mrudula; Motwani, Rohini; Kumar, Naina; Roy, Subhrajyoti.

Surg Radiol Anat ; 46(4): 501-506, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38310170

20.

[Contemporary diagnosis and management of congenital microtia and aural atresia : Part 2: Overview of therapeutic approaches]. / Aktuelle Diagnostik und Therapie bei Ohrmuscheldysplasien und Gehörgangsfehlbildungen : Teil 2: Übersicht der verschiedenen Therapieansätze.

Brandt, Hannes H; Bodmer, Daniel.

HNO ; 72(1): 57-68, 2024 Jan.

Artigo em Alemão | MEDLINE | ID: mdl-38047932

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Instituto Evandro Chagas

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