Works by Lidov, Hart G.

Results: 24

Cover.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. i, doi. 10.1002/mgg3.646

By:

Bruels, Christine C.;
Li, Chengcheng;
Mendoza, Tonatiuh;
Khan, Jamillah;
Reddy, Hemakumar M.;
Estrella, Elicia A.;
Ghosh, Partha S.;
Darras, Basil T.;
Lidov, Hart G. W.;
Pacak, Christina A.;
Kunkel, Louis M.;
Modave, François;
Draper, Isabelle;
Kang, Peter B.

Publication type:

Article

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.552

By:

Bruels, Christine C.;
Li, Chengcheng;
Mendoza, Tonatiuh;
Khan, Jamillah;
Reddy, Hemakumar M.;
Estrella, Elicia A.;
Ghosh, Partha S.;
Darras, Basil T.;
Lidov, Hart G. W.;
Pacak, Christina A.;
Kunkel, Louis M.;
Modave, François;
Draper, Isabelle;
Kang, Peter B.

Publication type:

Article

Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant.

Published in:

Histopathology, 2021, v. 78, p. 265, doi. 10.1111/his.14217

By:

Alexandrescu, Sanda;
Meredith, David M.;
Lidov, Hart G.;
Alaggio, Rita;
Novello, Mariangela;
Ligon, Keith L.;
Vargas, Sara O.

Publication type:

Article

Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin‐like enhancer 1 in primary intracranial sarcoma, DICER1‐mutant.

Published in:

Histopathology, 2021, v. 78, n. 1, p. 265, doi. 10.1111/his.14217

By:

Alexandrescu, Sanda;
Meredith, David M;
Lidov, Hart G;
Alaggio, Rita;
Novello, Mariangela;
Ligon, Keith L;
Vargas, Sara O

Publication type:

Article

PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours.

Published in:

Histopathology, 2018, v. 73, n. 3, p. 483, doi. 10.1111/his.13648

By:

Alexandrescu, Sanda;
Paulson, Vera;
Dubuc, Adrian;
Ligon, Azra;
Lidov, Hart G.

Publication type:

Article

A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 3, p. 349, doi. 10.1177/0883073807309248

By:

Raju, G. Praveen;
Hsin-Chang Li;
Bali, Deeksha S.;
Yuan-Tsong Chen;
Urion, David K.;
Lidov, Hart G. W.;
Kang, Peter B.

Publication type:

Article

Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita.

Published in:

Annals of Neurology, 2003, v. 54, n. 6, p. 790

By:

Peter B. Kang;
Hart G. W. Lidov;
William S. David;
Alcy Torres;
Douglas C. Anthony;
H. Royden Jones;
Basil T. Darras

Publication type:

Article

Neuromuscular pathology in Vici syndrome.

Published in:

FASEB Journal, 2007, v. 21, n. 5, p. A399

By:

Lidov, Hart G. W.;
Kang, Peter B.;
De Girolami, Umberto

Publication type:

Article

A novel GIT2-BRAF fusion in pilocytic astrocytoma.

Published in:

Diagnostic Pathology, 2017, v. 12, p. 1, doi. 10.1186/s13000-017-0669-5

By:

Helgager, Jeffrey;
Lidov, Hart G.;
Mahadevan, Navin R.;
Kieran, Mark W.;
Ligon, Keith L.;
Alexandrescu, Sanda

Publication type:

Article

Non‐vascular intracranial lesions in three children with PHACE association.

Published in:

Pediatric Dermatology, 2024, v. 41, n. 2, p. 284, doi. 10.1111/pde.15423

By:

Mologousis, Mia A.;
Balkin, Daniel M.;
Smith, Edward R.;
Lidov, Hart G. W.;
Li, Alice M.;
Yang, Edward;
Liang, Marilyn G.

Publication type:

Article

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Published in:

2016

By:

Byrne, Susan;
Jansen, Lara;
U-King-Im, Jean-Marie;
Siddiqui, Ata;
Lidov, Hart G. W.;
Bodi, Istvan;
Smith, Luke;
Mein, Rachael;
Cullup, Thomas;
Dionisi-Vici, Carlo;
Al-Gazali, Lihadh;
Al-Owain, Mohammed;
Bruwer, Zandre;
Al Thihli, Khalid;
El-Garhy, Rana;
Flanigan, Kevin M.;
Manickam, Kandamurugu;
Zmuda, Erik;
Banks, Wesley;
Gershoni-Baruch, Ruth

Publication type:

journal article

The lost art of localization: Franc Ingraham's legacy in pediatric neurosurgery.

Published in:

Journal of Neurosurgery, 2013, p. 642, doi. 10.3171/2013.8.PEDS1377

By:

COHEN, ALAN R.;
VOGEL, TIMOTHY W.;
LIDOV, HART G. W.

Publication type:

Article

Intrasacral meningocele in the pediatric population.

Published in:

Journal of Neurosurgery, 2013, p. 615, doi. 10.3171/2013.3.PEDS12519

By:

LOHANI, SUBASH;
RODRIGUEZ, DIANA P.;
LIDOV, HART G. W.;
SCOTT, R. MICHAEL;
PROCTOR, MARK R.

Publication type:

Article

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

Published in:

BMC Medical Genetics, 2011, v. 12, n. 1, p. 87, doi. 10.1186/1471-2350-12-87

By:

Boyden, Steven E.;
Duncan, Anna R.;
Estrella, Elicia A.;
Lidov, Hart G. W.;
Mahoney, Lane J.;
Katz, Jonathan S.;
Kunkel, Louis M.;
Kang, Peter B.

Publication type:

Article

Increasing value of autopsies in patients with brain tumors in the molecular era.

Published in:

Journal of Neuro-Oncology, 2019, v. 145, n. 2, p. 349, doi. 10.1007/s11060-019-03302-z

By:

Ahrendsen, Jared T.;
Filbin, Mariella G.;
Chi, Susan N.;
Manley, Peter E.;
Wright, Karen D.;
Bandopadhayay, Pratiti;
Clymer, Jessica R.;
Yeo, Kee Kiat;
Kieran, Mark W.;
Jones, Robert;
Lidov, Hart G.;
Ligon, Keith L.;
Alexandrescu, Sanda

Publication type:

Article

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy.

Published in:

Muscle & Nerve, 2024, v. 70, n. 4, p. 843, doi. 10.1002/mus.28214

By:

Turner, Johnnie;
Bruels, Christine C.;
Daugherty, Audrey L.;
Estrella, Elicia A.;
Stafki, Seth;
Syeda, Safoora B.;
Littel, Hannah R.;
Pais, Lynn;
Ganesh, Vijay S.;
Lidov, Hart G. W.;
Paine, Simon M. L.;
Maddison, Paul;
Harrison, Rachel E.;
Straub, Volker;
Ghosh, Partha S.;
Pacak, Christina A.;
Kunkel, Louis M.;
Draper, Isabelle;
Topf, Ana;
Kang, Peter B.

Publication type:

Article

Pediatric sciatic neuropathy associated with neoplasms.

Published in:

Muscle & Nerve, 2011, v. 43, n. 2, p. 183, doi. 10.1002/mus.21867

By:

Mcmillan, Hugh J.;
Srinivasan, Jayashri;
Darras, Basil T.;
Ryan, Monique M.;
Davis, James;
Lidov, Hart G.;
Gill, Deepak;
Jones, H. Royden

Publication type:

Article

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.

Published in:

Scientific Reports, 2016, p. 26202, doi. 10.1038/srep26202

By:

Mangum, Joshua E.;
Hardee, Justin P.;
Fix, Dennis K.;
Puppa, Melissa J.;
Elkes, Johnathon;
Altomare, Diego;
Bykhovskaya, Yelena;
Campagna, Dean R.;
Schmidt, Paul J.;
Sendamarai, Anoop K.;
Lidov, Hart G. W.;
Barlow, Shayne C.;
Fischel-Ghodsian, Nathan;
Fleming, Mark D.;
Carson, James A.;
Patton, Jeffrey R.

Publication type:

Article

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 20, p. 3995, doi. 10.1093/hmg/ddq314

By:

Chan, Yiumo Michael;
Keramaris-Vrantsis, Elizabeth;
Lidov, Hart G.;
Norton, James H.;
Zinchenko, Natalia;
Gruber, Helen E.;
Thresher, Randy;
Blake, Derek J.;
Ashar, Jignya;
Rosenfeld, Jeffrey;
Lu, Qi L.

Publication type:

Article

Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1841, doi. 10.1093/hmg/5.11.1841

By:

McNally, Elizabeth M.;
Duggan, David;
Rafael Gorospe, J.;
Bönnemann, Carsten G.;
Fanin, Marina;
Pegoraro, Elena;
Lidov, Hart G. W.;
Noguchi, Satoru;
Ozawa, Eijiro;
Finkel, Richard S.;
Cruse, Robert P.;
Angelini, Corrado;
Kunkel, Louis M.;
Hoffman, Eric P.

Publication type:

Article

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 3, p. 329

By:

Lidov, Hart G. W.;
Selig, Sara;
Kunkel, Louis M.

Publication type:

Article

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.

Published in:

Brain: A Journal of Neurology, 2022, v. 145, n. 8, p. 2704, doi. 10.1093/brain/awac117

By:

Lai, Dulcie;
Gade, Meethila;
Yang, Edward;
Koh, Hyun Yong;
Lu, Jinfeng;
Walley, Nicole M;
Buckley, Anne F;
Sands, Tristan T;
Akman, Cigdem I;
Mikati, Mohamad A;
McKhann, Guy M;
Goldman, James E;
Canoll, Peter;
Alexander, Allyson L;
Park, Kristen L;
Allmen, Gretchen K Von;
Rodziyevska, Olga;
Bhattacharjee, Meenakshi B;
Lidov, Hart G W;
Vogel, Hannes

Publication type:

Article

Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.

Published in:

Nature Genetics, 2014, v. 46, n. 2, p. 161, doi. 10.1038/ng.2868

By:

Brastianos, Priscilla K;
Taylor-Weiner, Amaro;
Manley, Peter E;
Jones, Robert T;
Dias-Santagata, Dora;
Thorner, Aaron R;
Lawrence, Michael S;
Rodriguez, Fausto J;
Bernardo, Lindsay A;
Schubert, Laura;
Sunkavalli, Ashwini;
Shillingford, Nick;
Calicchio, Monica L;
Lidov, Hart G W;
Taha, Hala;
Martinez-Lage, Maria;
Santi, Mariarita;
Storm, Phillip B;
Lee, John Y K;
Palmer, James N

Publication type:

Article

Rapid reversal of uremic neuropathy following renal transplantation in an adolescent.

Published in:

Pediatric Transplantation, 2012, v. 16, n. 7, p. E296, doi. 10.1111/j.1399-3046.2011.01630.x

By:

Ho, Doreen T.;
Rodig, Nancy M.;
Kim, Heung B.;
Lidov, Hart G. W.;
Shapiro, Frederic D.;
Raju, G. Praveen;
Kang, Peter B.

Publication type:

Article