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Year Number of Results
1983 1
1984 1
1988 1
1990 4
1991 3
1992 5
1993 6
1994 12
1995 5
1996 5
1997 2
1998 3
1999 3
2000 3
2001 2
2002 6
2003 7
2004 5
2005 5
2006 4
2007 8
2008 7
2009 7
2010 10
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2012 21
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561 results

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Page 1
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing.
Wang Y, Tan J, Wang Y, Liu A, Qiao F, Huang M, Zhang C, Zhou J, Hu P, Xu Z. Wang Y, et al. Neurol Genet. 2021 Nov 23;7(6):e635. doi: 10.1212/NXG.0000000000000635. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34841066 Free PMC article.
RESULTS: Clinical examinations showed that the proband's features were similar to a rare autosomal-dominant neurodevelopmental syndrome, Shashi-Pena syndrome (MIM #617190). Karyotyping showed that a chromosomal balanced translocation t(2; 11) (p23; q23) was detected in the …
RESULTS: Clinical examinations showed that the proband's features were similar to a rare autosomal-dominant neurodevelopmental syndrome, …
Exome/Genome Sequencing in Undiagnosed Syndromes.
Sullivan JA, Schoch K, Spillmann RC, Shashi V. Sullivan JA, et al. Annu Rev Med. 2023 Jan 27;74:489-502. doi: 10.1146/annurev-med-042921-110721. Annu Rev Med. 2023. PMID: 36706750 Free PMC article. Review.
Mitochondrial biogenesis: pharmacological approaches.
Valero T. Valero T. Curr Pharm Des. 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. Curr Pharm Des. 2014. PMID: 24606795
Parkinsons Disease (PD) is a very good example of this important mitochondrial component on neurodegenerative diseases. Anuradha Yadav, Swati Agrawal, Shashi Kant Tiwari, and Rajnish K. Chaturvedi (CSIR-Indian Institute of Toxicology Research / Academy of Scientific and In …
Parkinsons Disease (PD) is a very good example of this important mitochondrial component on neurodegenerative diseases. Anuradha Yadav, Swat …
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Oral findings and healthcare management in Shashi-Pena syndrome.
Alqaisi D, Hassona Y. Alqaisi D, et al. Spec Care Dentist. 2022 Jul;42(4):432-436. doi: 10.1111/scd.12689. Epub 2021 Dec 13. Spec Care Dentist. 2022. PMID: 34902171
Shashi Pena syndrome (SHAPNS) is a newly recognized and rare neurodevelopmental disorder with unique phenotypic features. ...
Shashi Pena syndrome (SHAPNS) is a newly recognized and rare neurodevelopmental disorder with unique phenotypic features. ...
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Rodan LH, et al. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23. Genet Med. 2021. PMID: 34163037 Free PMC article.
Shashi XLMR syndrome: report of a second family.
Castro NH, dos Santos RC, Nelson R, Beçak W, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE. Castro NH, et al. Am J Med Genet A. 2003 Apr 1;118A(1):49-51. doi: 10.1002/ajmg.a.10888. Am J Med Genet A. 2003. PMID: 12605440
This same constellation of findings was observed in a family with X-linked mental retardation (XLMR) reported by Shashi et al. [2000: Am J Hum Genet 66:469-479]. Furthermore, haplotype analysis was consistent with localization of the Shashi XLMR syndrome in Xq26-q27 …
This same constellation of findings was observed in a family with X-linked mental retardation (XLMR) reported by Shashi et al. [2000: …
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Rehder C, Bean LJH, Bick D, Chao E, Chung W, Das S, O'Daniel J, Rehm H, Shashi V, Vincent LM; ACMG Laboratory Quality Assurance Committee. Rehder C, et al. Genet Med. 2021 Aug;23(8):1399-1415. doi: 10.1038/s41436-021-01139-4. Epub 2021 Apr 29. Genet Med. 2021. PMID: 33927380 Free article.
Deletion of RBMX RGG/RG motif in Shashi-XLID syndrome leads to aberrant p53 activation and neuronal differentiation defects.
Cai T, Cinkornpumin JK, Yu Z, Villarreal OD, Pastor WA, Richard S. Cai T, et al. Cell Rep. 2021 Jul 13;36(2):109337. doi: 10.1016/j.celrep.2021.109337. Cell Rep. 2021. PMID: 34260915 Free article.
Shashi-XLID neural progenitor cells (NPCs) display differentiation and morphological abnormalities accompanied with excessive apoptosis. Our findings identify RBMX as a regulator of SRSF1 and the p53 pathway, suggesting that the loss of function of the RBMX RGG/RG motif is
Shashi-XLID neural progenitor cells (NPCs) display differentiation and morphological abnormalities accompanied with excessive apoptos
561 results