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1.

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.

Tyler, Paul M; Bucklin, Molly L; Zhao, Mengting; Maher, Timothy J; Rice, Andrew J; Ji, Weizhen; Warner, Neil; Pan, Jie; Morotti, Raffaella; McCarthy, Paul; Griffiths, Anne; van Rossum, Annemarie M C; Hollink, Iris H I M; Dalm, Virgil A S H; Catanzaro, Jason; Lakhani, Saquib A; Muise, Aleixo M; Lucas, Carrie L.

Nat Immunol; 22(9): 1118-1126, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-34326534

2.

Apoptotic caspases prevent the induction of type I interferons by mitochondrial DNA.

Rongvaux, Anthony; Jackson, Ruaidhrí; Harman, Christian C D; Li, Tuo; West, A Phillip; de Zoete, Marcel R; Wu, Youtong; Yordy, Brian; Lakhani, Saquib A; Kuan, Chia-Yi; Taniguchi, Tadatsugu; Shadel, Gerald S; Chen, Zhijian J; Iwasaki, Akiko; Flavell, Richard A.

Cell; 159(7): 1563-77, 2014 Dec 18.

Artículo en Inglés | MEDLINE | ID: mdl-25525875

3.

"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.

Olyha, Sam J; O'Connor, Shannon K; Kribis, Marat; Bucklin, Molly L; Uthaya Kumar, Dinesh Babu; Tyler, Paul M; Alam, Faiad; Jones, Kate M; Sheikha, Hassan; Konnikova, Liza; Lakhani, Saquib A; Montgomery, Ruth R; Catanzaro, Jason; Du, Hongqiang; DiGiacomo, Daniel V; Rothermel, Holly; Moran, Christopher J; Fiedler, Karoline; Warner, Neil; Hoppenreijs, Esther P A H; van der Made, Caspar I; Hoischen, Alexander; Olbrich, Peter; Neth, Olaf; Rodríguez-Martínez, Alejandro; Lucena Soto, José Manuel; van Rossum, Annemarie M C; Dalm, Virgil A S H; Muise, Aleixo M; Lucas, Carrie L.

J Clin Immunol; 44(2): 44, 2024 Jan 17.

Artículo en Inglés | MEDLINE | ID: mdl-38231408

4.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Jeffries, Lauren; Mis, Emily K; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B; Banka, Siddharth; Chao, Katherine R; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M; Stals, Karen; Towner, Shelley; Wilson, William; Khokha, Mustafa K; Bönnemann, Carsten G; Lucas, Carrie L; Lakhani, Saquib A.

Genet Med; 26(2): 101023, 2024 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-37947183

5.

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

Khan, Fati Ullah; Khan, Hammal; Ullah, Kifayat; Nawaz, Shoaib; Khan, Muhammad Javed; Ahmed, Sohail; Ilyas, Muhammad; Ali, Amjad; Ullah, Imran; Sohail, Aamir; Hussain, Shabir; Ahmad, Farooq; Sufyan, Raza; Hayat, Amir; Hanif, Tooba; Bibi, Fatima; Hayat, Maria; Ullah, Rehmat; Khan, Inam Ullah; Ali, Raja Hussain; Hasni, Muhammad Sharif; Ali, Hamid; Bilal, Muhammad; Peralta, Susana; Buchert, Rebecca; Zehri, Zamrud; Hassan, Gul; Liaqat, Khurrum; Zahid, Muhammad; Shah, Khadim; Mikitie, Outi; Haack, Tobias B; Ji, Weizhen; Lakhani, Saquib A; Ansar, Muhammad; Ahmad, Wasim.

Clin Genet; 2024 May 22.

Artículo en Inglés | MEDLINE | ID: mdl-38774940

6.

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.

Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances.

Genet Med; 25(8): 100856, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-37092537

7.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Alharatani, Reham; Ververi, Athina; Beleza-Meireles, Ana; Ji, Weizhen; Mis, Emily; Patterson, Quinten T; Griffin, John N; Bhujel, Nabina; Chang, Caitlin A; Dixit, Abhijit; Konstantino, Monica; Healy, Christopher; Hannan, Sumayyah; Neo, Natsuko; Cash, Alex; Li, Dong; Bhoj, Elizabeth; Zackai, Elaine H; Cleaver, Ruth; Baralle, Diana; McEntagart, Meriel; Newbury-Ecob, Ruth; Scott, Richard; Hurst, Jane A; Au, Ping Yee Billie; Hosey, Marie Therese; Khokha, Mustafa; Marciano, Denise K; Lakhani, Saquib A; Liu, Karen J.

Hum Mol Genet; 29(11): 1900-1921, 2020 07 21.

Artículo en Inglés | MEDLINE | ID: mdl-32196547

8.

A retrospective cohort analysis of the Yale pediatric genomics discovery program.

Al-Ali, Samir; Jeffries, Lauren; Faustino, E Vincent S; Ji, Weizhen; Mis, Emily; Konstantino, Monica; Zerillo, Cynthia; Jiang, Yong-Hui; Spencer-Manzon, Michele; Bale, Allen; Zhang, Hui; McGlynn, Julie; McGrath, James M; Tremblay, Thierry; Brodsky, Nina N; Lucas, Carrie L; Pierce, Richard; Deniz, Engin; Khokha, Mustafa K; Lakhani, Saquib A.

Am J Med Genet A; 188(10): 2869-2878, 2022 10.

Artículo en Inglés | MEDLINE | ID: mdl-35899841

9.

Examination of Early Endotracheal Aspirate Cultures in Children with Acute Respiratory Failure Due to Presumed Acute Respiratory Tract Infection.

Olgun, Gokhan; Whalen, Lesta D; Sandeen, Ashley R; Bula-Rudas, Fernando J; Lakhani, Saquib A.

S D Med; 75(6): 268-272, 2022 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-36206568

10.

Functional testing for variant prioritization in a family with long QT syndrome.

Najari Beidokhti, Maliheh; Bertalovitz, Alexander C; Ji, Weizhen; McCormack, Jorge; Jeffries, Lauren; Sempou, Emily; Khokha, Mustafa K; McDonald, Thomas V; Lakhani, Saquib A.

Mol Genet Genomics; 296(4): 823-836, 2021 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-33876311

11.

Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

Mis, Emily K; Sega, Annalisa G; Signer, Rebecca H; Cartwright, Tracy; Ji, Weizhen; Martinez-Agosto, Julian A; Nelson, Stanley F; Palmer, Christina G S; Lee, Hane; Mitzelfelt, Thomas; Konstantino, Monica; Jeffries, Lauren; Khokha, Mustafa K; Marco, Elysa; Martin, Martin G; Lakhani, Saquib A.

Am J Med Genet A; 185(4): 1076-1080, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33438828

12.

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

Amabile, Sonia; Jeffries, Lauren; McGrath, James M; Ji, Weizhen; Spencer-Manzon, Michele; Zhang, Hui; Lakhani, Saquib A.

Am J Med Genet A; 182(9): 2049-2057, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32656949

13.

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

Mis, Emily K; Al-Ali, Samir; Ji, Weizhen; Spencer-Manzon, Michele; Konstantino, Monica; Khokha, Mustafa K; Jeffries, Lauren; Lakhani, Saquib A.

Am J Med Genet A; 182(10): 2291-2296, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32812332

14.

Patients with common variable immunodeficiency with autoimmune cytopenias exhibit hyperplastic yet inefficient germinal center responses.

Romberg, Neil; Le Coz, Carole; Glauzy, Salomé; Schickel, Jean-Nicolas; Trofa, Melissa; Nolan, Brian E; Paessler, Michele; Xu, Mina L; Lambert, Michele P; Lakhani, Saquib A; Khokha, Mustafa K; Jyonouchi, Soma; Heimall, Jennifer; Takach, Patricia; Maglione, Paul J; Catanzaro, Jason; Hsu, F Ida; Sullivan, Kathleen E; Cunningham-Rundles, Charlotte; Meffre, Eric.

J Allergy Clin Immunol; 143(1): 258-265, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-29935219

15.

Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families.

Hussain, Shabir; Ji, Weizhen; Khan, Hammal; Mis, Emily K; Mushtaq, Rabiha; Chodhary, Mirub; Raza, Muhammad Hassan; Jan, Abid; Ullah, Imran; Khokha, Mustafa K; Lakhani, Saquib A; Ahmad, Wasim.

Clin Genet; 105(1): 109-111, 2024 01.

Artículo en Inglés | MEDLINE | ID: mdl-37776184

16.

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.

Elfar, Walaa; Järvinen, Erkka; Ji, Weizhen; Mosorin, Johanna; Sega, Annalisa G; Iuga, Alina C; Lobritto, Steven J; Konstantino, Monica; Chan, Albert; Finel, Moshe; Lakhani, Saquib A.

Drug Metab Dispos; 47(1): 45-48, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30385458

17.

Rethinking what constitutes a diagnosis in the genomics era: a critical illness perspective.

Lakhani, Saquib A; Pierce, Richard.

Curr Opin Pediatr; 31(3): 317-321, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-31090571

18.

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

Sandokji, Ibrahim; Marquez, Jonathan; Ji, Weizhen; Zerillo, Cynthia A; Konstantino, Monica; Lakhani, Saquib A; Khokha, Mustafa K; Warejko, Jillian K.

BMC Nephrol; 20(1): 271, 2019 07 17.

Artículo en Inglés | MEDLINE | ID: mdl-31315584

19.

Altered mental status and vulvar ulcer in a 10-year-old girl.

Wong, Katelyn H; Flagg, Lauren; Ocasio Abrams, Nicolle; Galan, Anjela; Lakhani, Saquib A.

J Paediatr Child Health; 58(11): 2101-2103, 2022 11.

Artículo en Inglés | MEDLINE | ID: mdl-35769025

20.

Pediatric Traumatic Brain Injury.

Schaller, Alexandra L; Lakhani, Saquib A; Hsu, Benson S.

S D Med; 68(10): 457-61, 463, 2015 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-26630835

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