Pesquisa | Portal de Pesquisa da BVS Enfermagem

1.

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.

Torene, Rebecca I; Guillen Sacoto, Maria J; Millan, Francisca; Zhang, Zhancheng; McGee, Stephen; Oetjens, Matthew; Heise, Elizabeth; Chong, Karen; Sidlow, Richard; O'Grady, Lauren; Sahai, Inderneel; Martin, Christa L; Ledbetter, David H; Myers, Scott M; Mitchell, Kevin J; Retterer, Kyle.

Am J Hum Genet ; 111(1): 70-81, 2024 Jan 04.

Artigo em Inglês | MEDLINE | ID: mdl-38091987

2.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K M; Rooney, Kathleen; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M; Vissers, Lisenka E L M; de Vries, Bert B A; Pfundt, Rolph; Elting, Mariet W; van Hagen, Johanna M; Verbeek, Nienke E; Jongmans, Marjolijn C J; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G M; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E; Ounap, Katrin; Hoffer, Mariëtte J V; Nezarati, Marjan M; van den Boogaard, Marie-José H; Tedder, Matthew L; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.

Hum Genet ; 2024 May 24.

Artigo em Inglês | MEDLINE | ID: mdl-38787418

3.

Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data.

Jackson, Suellen; Freeman, Rebecca; Noronha, Adriana; Jamil, Hafsah; Chavez, Eric; Carmichael, Jason; Ruiz, Kaylee M; Miller, Christine; Benke, Sarah; Perrot, Rosalie; Hockley, Maryam; Murphy, Kady; Casillan, Aimiel; Radanovich, Lily; Deforest, Roger; Nunes, Mark E; Galarreta-Aima, Carolina; Sidlow, Richard; Einhorn, Yaron; Woods, Jeremy.

Am J Med Genet A ; 194(5): e63505, 2024 May.

Artigo em Inglês | MEDLINE | ID: mdl-38168469

4.

Visual perception, cognition, and error in dermatologic diagnosis: Key cognitive principles.

Ko, Christine J; Braverman, Irwin; Sidlow, Richard; Lowenstein, Eve J.

J Am Acad Dermatol ; 81(6): 1227-1234, 2019 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-30797839

5.

Visual perception, cognition, and error in dermatologic diagnosis: Diagnosis and error.

Lowenstein, Eve J; Sidlow, Richard; Ko, Christine J.

J Am Acad Dermatol ; 81(6): 1237-1245, 2019 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-30797841

6.

A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy.

Soffer, Omri David; Sidlow, Richard.

Am J Med Genet A ; 170(7): 1881-3, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-27090848

7.

Case 4: Scalp Swelling Beyond the Immediate Postpartum Period.

Bouchard, Mark; Di Toro, Linda; Neuman, Jeremy; Sidlow, Richard; Kaplan, Dana M.

Pediatr Rev ; 41(1): 38-40, 2020 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-31894074

8.

Henoch-Schönlein Purpura Presenting With Subcutaneous Edema: A Case Report and a Proposal to Include Subcutaneous Edema as a Diagnostic Criterion.

Bouchard, Mark; Sidlow, Richard.

J Clin Rheumatol ; 26(3): e65-e66, 2020 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-30142114

9.

A Case of Beta-Propeller Protein-Associated Neurodegeneration With a Unique Truncating Variant in the WDR45 Gene and Uncommon Clinical and Radiologic Findings.

Esbit, Simon; Sidlow, Richard.

Cureus ; 16(4): e58127, 2024 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-38741870

10.

Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report.

Van Buren, Jacob D; Neuman, Jeremy T; Sidlow, Richard.

Am J Case Rep ; 24: e938507, 2023 Jan 24.

Artigo em Inglês | MEDLINE | ID: mdl-36691356

11.

Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review.

Szeto, Chun Ho; Rubin, Sarina; Sidlow, Richard.

Cureus ; 15(5): e39226, 2023 May.

Artigo em Inglês | MEDLINE | ID: mdl-37337484

12.

Native American ataxia medicines rescue ataxia-linked mutant potassium channel activity via binding to the voltage sensing domain.

Manville, Rían W; Alfredo Freites, J; Sidlow, Richard; Tobias, Douglas J; Abbott, Geoffrey W.

Nat Commun ; 14(1): 3281, 2023 06 06.

Artigo em Inglês | MEDLINE | ID: mdl-37280215

13.

Anaesthesia and orphan disease: Difficult ventilation following intubation in Goldenhar syndrome.

Hasham, Faiz; van Helmond, Noud; Sidlow, Richard.

Eur J Anaesthesiol ; 34(3): 181-183, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-28141737

14.

Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia.

Manville, Rían W; Sidlow, Richard; Abbott, Geoffrey W.

Front Neurol ; 13: 975849, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36016548

15.

Neck-Tongue Syndrome: Viewpoints on Etiology in a Patient with Bilateral Symptoms.

Sidlow, Jonathan S; Raden, Mark J; Sidlow, Richard.

Case Rep Neurol Med ; 2018: 9131068, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29955404

16.

Camptocormia in an Adolescent: A Case Report and Review of the Literature.

Kaplan, Laura; Aurigemma, Erik; Sullivan, Timothy; Sidlow, Richard.

Case Rep Psychiatry ; 2018: 4606171, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-29971176

17.

Pulmonary Systemic Lupus Erythematosus Mimicking a Pneumonia in a Postpartum Female.

Jain, Varun; Aziz, Maryann; Banoub, Mina G; Neuman, Jeremy T; Sidlow, Richard.

Case Rep Rheumatol ; 2018: 5379192, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-30140480

18.

Another Case of Multilevel Cervical Disconnection Syndrome Presenting as Neonatal Encephalopathy.

Brady, Kaylan M; Blau, Jonathan A; Serras, Spencer J; Neuman, Jeremy T; Sidlow, Richard.

Case Rep Neurol Med ; 2018: 7908753, 2018.

Artigo em Inglês | MEDLINE | ID: mdl-30473896

19.

Juvenile Granulosa Cell Tumor of the Testicle - Report of a Neonatal Case with Positive Alpha-fetoprotein Immunohistochemical Staining.

Dundas, Melissa; Horowitz, Mark; Sidlow, Richard.

Urol Case Rep ; 12: 49-50, 2017 May.

Artigo em Inglês | MEDLINE | ID: mdl-28331810

20.

Orbital Myositis.

Brent, Howard; Sidlow, Richard.

Clin Pediatr (Phila) ; 56(4): 385-388, 2017 04.

Artigo em Inglês | MEDLINE | ID: mdl-27462048

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