Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K; Calame, Daniel G; Misra, Vinod K; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M; Emrick, Lisa; Chung, Wendy K; Hellmich, Ute A; Schmidts, Miriam; Lupski, James R; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Hübner, Christian A.

Genet Med ; 26(3): 101034, 2024 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-38054405

2.

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.

Gunning, Adam C; Strucinska, Klaudia; Muñoz Oreja, Mikel; Parrish, Andrew; Caswell, Richard; Stals, Karen L; Durigon, Romina; Durlacher-Betzer, Karina; Cunningham, Mitchell H; Grochowski, Christopher M; Baptista, Julia; Tysoe, Carolyn; Baple, Emma; Lahiri, Nayana; Homfray, Tessa; Scurr, Ingrid; Armstrong, Catherine; Dean, John; Fernandez Pelayo, Uxoa; Jones, Aleck W E; Taylor, Robert W; Misra, Vinod K; Yoon, Wan Hee; Wright, Caroline F; Lupski, James R; Spinazzola, Antonella; Harel, Tamar; Holt, Ian J; Ellard, Sian.

Am J Hum Genet ; 106(2): 272-279, 2020 02 06.

Artículo en Inglés | MEDLINE | ID: mdl-32004445

3.

Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10.

Imagawa, Eri; Moreta, Latisha; Misra, Vinod K; Newman, Claire; Konuma, Tsuyoshi; Oishi, Kimihiko.

J Hum Genet ; 68(9): 643-648, 2023 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-37268768

4.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Acharya, Anushree; Kavus, Haluk; Dunn, Patrick; Nasir, Abdul; Folk, Leandra; Withrow, Kara; Wentzensen, Ingrid M; Ruzhnikov, Maura R Z; Fallot, Camille; Smol, Thomas; Rama, Mélanie; Brown, Kathleen; Whalen, Sandra; Ziegler, Alban; Barth, Magali; Chassevent, Anna; Smith-Hicks, Constance; Afenjar, Alexandra; Courtin, Thomas; Heide, Solveig; Font-Montgomery, Esperanza; Heid, Caleb; Hamm, J Austin; Love, Donald R; Thabet, Farouq; Misra, Vinod K; Cunningham, Mitch; Leal, Suzanne M; Jarvela, Irma; Normand, Elizabeth A; Zou, Fanggeng; Helal, Mayada; Keren, Boris; Torti, Erin; Chung, Wendy K; Schrauwen, Isabelle.

J Med Genet ; 59(7): 669-677, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-34321324

5.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Angelozzi, Marco; Karvande, Anirudha; Molin, Arnaud N; Ritter, Alyssa L; Leonard, Jacqueline M M; Savatt, Juliann M; Douglass, Kristen; Myers, Scott M; Grippa, Mina; Tolchin, Dara; Zackai, Elaine; Donoghue, Sarah; Hurst, Anna C E; Descartes, Maria; Smith, Kirstin; Velasco, Danita; Schmanski, Andrew; Crunk, Amy; Tokita, Mari J; de Lange, Iris M; van Gassen, Koen; Robinson, Hannah; Guegan, Katie; Suri, Mohnish; Patel, Chirag; Bournez, Marie; Faivre, Laurence; Tran-Mau-Them, Frédéric; Baker, Janice; Fabie, Noelle; Weaver, K; Shillington, Amelle; Hopkin, Robert J; Barge-Schaapveld, Daniela Q C M; Ruivenkamp, Claudia Al; Bökenkamp, Regina; Vergano, Samantha; Seco Moro, Maria Noelia; Díaz de Bustamante, Aranzazu; Misra, Vinod K; Kennelly, Kelly; Rogers, Caleb; Friedman, Jennifer; Wigby, Kristen M; Lenberg, Jerica; Graziano, Claudio; Ahrens-Nicklas, Rebecca C; Lefebvre, Veronique.

J Med Genet ; 59(11): 1058-1068, 2022 11.

Artículo en Inglés | MEDLINE | ID: mdl-35232796

6.

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding.

Blackburn, Patrick R; Tischer, Alexander; Zimmermann, Michael T; Kemppainen, Jennifer L; Sastry, Sujatha; Knight Johnson, Amy E; Cousin, Margot A; Boczek, Nicole J; Oliver, Gavin; Misra, Vinod K; Gavrilova, Ralitza H; Lomberk, Gwen; Auton, Matthew; Urrutia, Raul; Klee, Eric W.

J Biol Chem ; 292(9): 3866-3876, 2017 03 03.

Artículo en Inglés | MEDLINE | ID: mdl-28057753

7.

Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy.

Smith, Jessica; Williams, Mitchel T; Misra, Vinod K.

Pract Neurol ; 18(3): 242-245, 2018 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-29175874

8.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P; Crenshaw, Melissa; Bartholomew, Dennis W; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W; Hernández-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K; Powell, Cynthia M; Randolph, Linda; Raskin, Salmo.

Hum Mutat ; 36(11): 1052-63, 2015 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-26178382

9.

Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.

Jay, Allison; Chikarmane, Rashmi; Poulik, Janet; Misra, Vinod K.

Cardiology ; 124(4): 248-51, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23594557

10.

Case 3: A 10-year-old Boy with Saber Shins.

Fabie, Noelle Andrea V; Misra, Vinod K.

Pediatr Rev ; 39(10): 523-526, 2018 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-30275036

11.

A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

Bedoyan, Jirair K; Lesperance, Marci M; Ackley, Todd; Iyer, Ramaswamy K; Innis, Jeffrey W; Misra, Vinod K.

Am J Med Genet A ; 155A(1): 154-63, 2011 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-21204225

12.

A 3'-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy.

Turner, Stefanie; Dress, Carolyn; Misra, Vinod K.

Eur J Med Genet ; 64(3): 104159, 2021 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-33548513

13.

A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome.

Chand, Momal T; Turner, Stefanie; Solomon, Leigh Ann; Jay, Allison; Rabah, Raja; Misra, Vinod K.

J Pediatr Adolesc Gynecol ; 33(5): 577-580, 2020 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-32565348

14.

Contribution of the closing base pair to exceptional stability in RNA tetraloops: roles for molecular mimicry and electrostatic factors.

Blose, Joshua M; Proctor, David J; Veeraraghavan, Narayanan; Misra, Vinod K; Bevilacqua, Philip C.

J Am Chem Soc ; 131(24): 8474-84, 2009 Jun 24.

Artículo en Inglés | MEDLINE | ID: mdl-19476351

15.

Dermal melanocytosis: more than meets the eye.

Sidhu, Alpa; Misra, Vinod K.

J Pediatr ; 165(5): 1060, 2014 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-25027364

16.

Ethnic heterogeneity in the longitudinal effects of placental vascular blood flow on birthweight.

Misra, Vinod K; Hobel, Calvin J; Sing, Charles F.

Am J Obstet Gynecol ; 198(1): 72.e1-8, 2008 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-17826729

17.

Declining school performance as a harbinger of a treatable neurodegenerative condition.

Prasun, Pankaj; Misra, Vinod K.

J Pediatr ; 160(6): 1062-2.e1, 2012 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-22284562

18.

A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1.

Thakur, Mili; Taha, Doris; Misra, Vinod K.

J Endocr Soc ; 1(4): 278-282, 2017 Apr 01.

Artículo en Inglés | MEDLINE | ID: mdl-29264484

19.

Preterm Delivery as a Unique Pathophysiologic State Characterized by Maternal Soluble FMS-Like Tyrosine Kinase 1 and Uterine Artery Resistance During Pregnancy: A Longitudinal Cohort Study.

Straughen, Jennifer K; Misra, Dawn P; Helmkamp, Laura; Misra, Vinod K.

Reprod Sci ; 24(12): 1583-1589, 2017 12.

Artículo en Inglés | MEDLINE | ID: mdl-28335685

20.

Rib Fracture in a Term Newborn with Respiratory Distress.

Doctor, Pezad N; Sood, Beena G; Natarajan, Girija; Misra, Vinod K.

Neoreviews ; 22(8): e559-e563, 2021 08.

Artículo en Inglés | MEDLINE | ID: mdl-34341165

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