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1.

The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H; Stong, Nicholas; Kranz, Peter G; Kansagra, Sujay; Mikati, Mohamad A; Jasien, Joan; El-Dairi, Mays; Galluzzi, Paolo; Ariani, Francesca; Renieri, Alessandra; Mari, Francesca; Wangler, Michael F; Arur, Swathi; Jiang, Yong-Hui; Yamamoto, Shinya; Shashi, Vandana; Bellen, Hugo J.

Hum Mol Genet ; 31(17): 2934-2950, 2022 08 25.

Artículo en Inglés | MEDLINE | ID: mdl-35405010

2.

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.

Luo, Xi; Schoch, Kelly; Jangam, Sharayu V; Bhavana, Venkata Hemanjani; Graves, Hillary K; Kansagra, Sujay; Jasien, Joan M; Stong, Nicholas; Keren, Boris; Mignot, Cyril; Ravelli, Claudia; Bellen, Hugo J; Wangler, Michael F; Shashi, Vandana; Yamamoto, Shinya.

Hum Mol Genet ; 30(14): 1283-1292, 2021 06 26.

Artículo en Inglés | MEDLINE | ID: mdl-33864376

3.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M.

Am J Hum Genet ; 103(2): 245-260, 2018 08 02.

Artículo en Inglés | MEDLINE | ID: mdl-30057031

4.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana.

Am J Hum Genet ; 100(2): 343-351, 2017 Feb 02.

Artículo en Inglés | MEDLINE | ID: mdl-28132692

5.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Pena, Loren D M; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C; Walley, Nicole; Stong, Nicholas; Rapisardo Horn, Sarah; Sullivan, Jennifer A; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C; El-Dairi, Mays; Bellet, Jane; Keels, Martha Ann; Jasien, Joan; Kranz, Peter G; Noel, Richard; Nagaraj, Shashi K; Lark, Robert K; Wechsler, Daniel S G; Del Gaudio, Daniela; Leung, Marco L; Hendon, Laura G; Parker, Collette C; Jones, Kelly L; Goldstein, David B; Shashi, Vandana.

Genet Med ; 20(4): 464-469, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-28914269

6.

Epilepsy in neurofibromatosis type 1.

Pecoraro, Anthony; Arehart, Eric; Gallentine, William; Radtke, Rodney; Smith, Edward; Pizoli, Carolyn; Kansagra, Sujay; Abdelnour, Elie; McLendon, Roger; Mikati, Mohamad A.

Epilepsy Behav ; 73: 137-141, 2017 08.

Artículo en Inglés | MEDLINE | ID: mdl-28633092

7.

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M.

Am J Hum Genet ; 103(3): 456, 2018 09 06.

Artículo en Inglés | MEDLINE | ID: mdl-30193138

8.

A Phase I, Open-Label, Single-Dose Safety, Pharmacokinetic, and Tolerability Study of the Sumatriptan Iontophoretic Transdermal System in Adolescent Migraine Patients.

Gutman, Dikla; Hellriegel, Edward; Aycardi, Ernesto; Bigal, Marcelo E; Kunta, Jeevan; Chitra, Rohini; Kansagra, Sujay; Kidron, Orna Srur; Knebel, Helena; Linder, Steven; Ma, Yuju; Pierce, Mark; Winner, Paul K; Spiegelstein, Ofer.

Headache ; 56(8): 1300-9, 2016 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-27474357

9.

Longitudinal polysomnographic findings in infantile Pompe disease.

Kansagra, Sujay; Austin, Stephanie; DeArmey, Stephanie; Kazi, Zoheb; Kravitz, Richard M; Kishnani, Priya S.

Am J Med Genet A ; 167A(4): 858-61, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-25706820

10.

Effect of sodium oxybate on body mass index in pediatric patients with narcolepsy.

Dauvilliers, Yves; Lammers, Gert Jan; Lecendreux, Michel; Maski, Kiran; Kansagra, Sujay; Black, Jed; Parvataneni, Rupa; Chen, Abby; Wang, Y Grace; Plazzi, Giuseppe.

J Clin Sleep Med ; 20(3): 445-454, 2024 Mar 01.

Artículo en Inglés | MEDLINE | ID: mdl-37942930

11.

Polysomnographic findings in infantile Pompe disease.

Kansagra, Sujay; Austin, Stephanie; DeArmey, Stephanie; Kishnani, Priya S; Kravitz, Richard M.

Am J Med Genet A ; 161A(12): 3196-200, 2013 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-24123966

12.

Sleep-disordered breathing in Beckwith-Wiedemann syndrome: three patients.

Kansagra, Sujay; D'Cruz, O'Neill; Noah, Terry L; Vaughn, Bradley V.

Am J Med Genet A ; 158A(11): 2956-8, 2012 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-22987607

13.

Impact of daily caffeine intake and timing on electroencephalogram-measured sleep in adolescents.

Lunsford-Avery, Jessica R; Kollins, Scott H; Kansagra, Sujay; Wang, Ke Will; Engelhard, Matthew M.

J Clin Sleep Med ; 18(3): 877-884, 2022 Mar 01.

Artículo en Inglés | MEDLINE | ID: mdl-34710040

14.

Death from supine asphyxia in late onset pompe disease: Two patients.

Kansagra, Sujay; Austin, Stephanie; DeArmey, Stephanie; Koeberl, Dwight; Kishnani, Priya S.

Am J Med Genet A ; 170(7): 1928-9, 2016 07.

Artículo en Inglés | MEDLINE | ID: mdl-27145023

15.

Oculogyric crises secondary to lamotrigine overdosage.

Veerapandiyan, Aravindhan; Gallentine, William B; Winchester, Sara A; Baker, John; Kansagra, Sujay M; Mikati, Mohamad A.

Epilepsia ; 52(3): e4-6, 2011 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-21395567

16.

Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.

Veerapandiyan, Aravindhan; Winchester, Sara A; Gallentine, William B; Smith, Edward C; Kansagra, Sujay; Hyland, Keith; Mikati, Mohamad A.

Epilepsy Behav ; 20(3): 494-501, 2011 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-21292558

17.

The effect of vagus nerve stimulation therapy on body mass index in children.

Kansagra, Sujay; Ataya, Nour; Lewis, Darrell; Gallentine, William; Mikati, Mohamad A.

Epilepsy Behav ; 19(1): 50-1, 2010 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-20675199

18.

Sleep Disorders in Adolescents.

Kansagra, Sujay.

Pediatrics ; 145(Suppl 2): S204-S209, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-32358212

19.

Quality of life after vagal nerve stimulator insertion.

Mikati, Mohamad A; Ataya, Nour F; El-Ferezli, Jessica C; Baghdadi, Tarafa S; Turkmani, Ali H; Comair, Youssef G; Kansagra, Sujay; Najjar, Marwan W.

Epileptic Disord ; 11(1): 67-74, 2009 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-19286494

20.

Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.

Kansagra, Sujay; Ghusayni, Ryan; Kherallah, Bassil; Gunduz, Talha; McLean, Melissa; Prange, Lyndsey; Kravitz, Richard M; Mikati, Mohamad A.

J Clin Sleep Med ; 15(1): 65-70, 2019 01 15.

Artículo en Inglés | MEDLINE | ID: mdl-30621840

BVS CLAP/SMR-OPS/OMS

Centro Latinoamericano de Perinatología, Salud de la Mujer y Reproductiva

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The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.

IRF2BPL Is Associated with Neurological Phenotypes.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.

Epilepsy in neurofibromatosis type 1.

IRF2BPL Is Associated with Neurological Phenotypes.

A Phase I, Open-Label, Single-Dose Safety, Pharmacokinetic, and Tolerability Study of the Sumatriptan Iontophoretic Transdermal System in Adolescent Migraine Patients.

Longitudinal polysomnographic findings in infantile Pompe disease.

Effect of sodium oxybate on body mass index in pediatric patients with narcolepsy.

Polysomnographic findings in infantile Pompe disease.

Sleep-disordered breathing in Beckwith-Wiedemann syndrome: three patients.

Impact of daily caffeine intake and timing on electroencephalogram-measured sleep in adolescents.

Death from supine asphyxia in late onset pompe disease: Two patients.

Oculogyric crises secondary to lamotrigine overdosage.

Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.

The effect of vagus nerve stimulation therapy on body mass index in children.

Sleep Disorders in Adolescents.

Quality of life after vagal nerve stimulator insertion.

Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.