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For: Chiurazzi P, Tabolacci E, Neri G. X-linked mental retardation (XLMR): from clinical conditions to cloned genes. Crit Rev Clin Lab Sci 2004;41:117-58. [PMID: 15270552 DOI: 10.1080/10408360490443013] [Citation(s) in RCA: 18] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Number Cited by Other Article(s)
1
Tolmacheva EN, Fonova EA, Lebedev IN. X-Linked CNV in Pathogenetics of Intellectual Disability. RUSS J GENET+ 2022;58:1193-1207. [DOI: 10.1134/s102279542210009x] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2022] [Revised: 05/25/2022] [Accepted: 05/31/2022] [Indexed: 01/05/2025]
2
Shakarami F, Jahani M, Nouri Z, Tabatabaiefar MA. X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene. Mol Genet Genomic Med 2022;10:e2034. [PMID: 35962714 PMCID: PMC9544208 DOI: 10.1002/mgg3.2034] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/10/2021] [Revised: 07/15/2022] [Accepted: 07/29/2022] [Indexed: 11/13/2022]  Open
3
Li L, Yu J, Zhang X, Han M, Liu W, Li H, Liu S. A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family. Mol Med Rep 2019;21:387-392. [PMID: 31746429 DOI: 10.3892/mmr.2019.10818] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/09/2019] [Accepted: 09/30/2019] [Indexed: 11/06/2022]  Open
4
Riveiro AR, Mariani L, Malmberg E, Amendola PG, Peltonen J, Wong G, Salcini AE. JMJD-1.2/PHF8 controls axon guidance by regulating Hedgehog-like signaling. Development 2017;144:856-865. [PMID: 28126843 DOI: 10.1242/dev.142695] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/25/2016] [Accepted: 01/09/2017] [Indexed: 01/10/2023]
5
Mundhofir FEP, Winarni TI, Nillesen W, Bon BWMV, Schepens M, Ruiterkamp-Versteeg M, Hamel BCJ, Yntema HG, Faradz SMH. Prevalence of fragile X syndrome in males and females in Indonesia. World J Med Genet 2012;2:15-22. [DOI: 10.5496/wjmg.v2.i3.15] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]  Open
6
Soltani Banavandi MJ, Kahrizi K, Behjati F, Mohseni M, Darvish H, Bahman I, Abedinni SS, Ghasemi Firouzabadi S, Jafari E, Ghadami S, Sabbagh F, Kavoosi GR, Najmabadi H. Investigation of genetic causes of intellectual disability in kerman province, South East of iran. IRANIAN RED CRESCENT MEDICAL JOURNAL 2012;14:79-85. [PMID: 22737560 PMCID: PMC3372047] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 07/10/2011] [Accepted: 10/12/2011] [Indexed: 11/30/2022]
7
Indhumathi N, Singh D, Chong SS, Thelma BK, Arabandi R, Srisailpathy CRS. Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing. Genet Test Mol Biomarkers 2011;16:113-22. [PMID: 22023245 DOI: 10.1089/gtmb.2011.0102] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/08/2023]  Open
8
Moraine C, Bonnet-Brilhault F, Laumonnier F, Gomot M. Could autism with mental retardation result from digenism and frequent de novo mutations? World J Biol Psychiatry 2010;10:1030-6. [PMID: 19160128 DOI: 10.1080/15622970802627455] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 10/21/2022]
9
Crespi B, Summers K, Dorus S. Evolutionary genomics of human intellectual disability. Evol Appl 2010;3:52-63. [PMID: 25567903 PMCID: PMC3352458 DOI: 10.1111/j.1752-4571.2009.00098.x] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/20/2009] [Accepted: 07/28/2009] [Indexed: 01/28/2023]  Open
10
Bashiardes S, Kousoulidou L, van Bokhoven H, Ropers HH, Chelly J, Moraine C, de Brouwer APM, Van Esch H, Froyen G, Patsalis PC. A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders. J Mol Diagn 2009;11:562-8. [PMID: 19779134 DOI: 10.2353/jmoldx.2009.090086] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/19/2023]  Open
11
Pouya AR, Abedini SS, Mansoorian N, Behjati F, Nikzat N, Mohseni M, Nieh SE, Abbasi Moheb L, Darvish H, Monajemi GB, Banihashemi S, Kahrizi K, Ropers HH, Najmabadi H. Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population. Eur J Med Genet 2009;52:170-3. [PMID: 19361583 DOI: 10.1016/j.ejmg.2009.03.014] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/18/2008] [Accepted: 03/27/2009] [Indexed: 11/20/2022]
12
[X-linked West syndrome]. An Pediatr (Barc) 2009;70:85-8. [PMID: 19174126 DOI: 10.1016/j.anpedi.2008.08.015] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/20/2008] [Revised: 07/31/2008] [Accepted: 08/01/2008] [Indexed: 11/22/2022]  Open
13
Bedeschi MF, Novelli A, Bernardini L, Parazzini C, Bianchi V, Torres B, Natacci F, Giuffrida MG, Ficarazzi P, Dallapiccola B, Lalatta F. Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. Am J Med Genet A 2008;146A:1718-24. [PMID: 18512229 DOI: 10.1002/ajmg.a.32365] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/22/2023]
14
Aitken KJ. Intersubjectivity, affective neuroscience, and the neurobiology of autistic spectrum disorders: a systematic review. Keio J Med 2008;57:15-36. [PMID: 18382122 DOI: 10.2302/kjm.57.15] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/21/2022]
15
Chiurazzi P, Schwartz CE, Gecz J, Neri G. XLMR genes: update 2007. Eur J Hum Genet 2008;16:422-34. [PMID: 18197188 DOI: 10.1038/sj.ejhg.5201994] [Citation(s) in RCA: 139] [Impact Index Per Article: 8.2] [Reference Citation Analysis] [Abstract] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]  Open
16
Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, Gecz J, Kurg A, Patsalis PC. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. Eur J Med Genet 2007;50:399-410. [DOI: 10.1016/j.ejmg.2007.09.001] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/06/2007] [Accepted: 09/23/2007] [Indexed: 02/04/2023]
17
Penagarikano O, Mulle JG, Warren ST. The Pathophysiology of Fragile X Syndrome. Annu Rev Genomics Hum Genet 2007;8:109-29. [PMID: 17477822 DOI: 10.1146/annurev.genom.8.080706.092249] [Citation(s) in RCA: 277] [Impact Index Per Article: 15.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/09/2022]
18
Laperuta C, Spizzichino L, D'Adamo P, Monfregola J, Maiorino A, D'Eustacchio A, Ventruto V, Neri G, D'Urso M, Chiurazzi P, Ursini MV, Miano MG. MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. BMC MEDICAL GENETICS 2007;8:25. [PMID: 17480217 PMCID: PMC1868705 DOI: 10.1186/1471-2350-8-25] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 11/22/2006] [Accepted: 05/04/2007] [Indexed: 12/02/2022]
19
Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T. Genetics and pathophysiology of mental retardation. Eur J Hum Genet 2006;14:701-13. [PMID: 16721406 DOI: 10.1038/sj.ejhg.5201595] [Citation(s) in RCA: 188] [Impact Index Per Article: 9.9] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/08/2022]  Open
20
Tabolacci E, Pomponi MG, Pietrobono R, Terracciano A, Chiurazzi P, Neri G. A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. Am J Med Genet A 2006;140:482-7. [PMID: 16470793 DOI: 10.1002/ajmg.a.31107] [Citation(s) in RCA: 46] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/15/2023]
21
Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T. TheARX mutations: A frequent cause of X-linked mental retardation. Am J Med Genet A 2006;140:727-32. [PMID: 16523516 DOI: 10.1002/ajmg.a.31151] [Citation(s) in RCA: 28] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022]
22
Tabolacci E, Zollino M, Lecce R, Sangiorgi E, Gurrieri F, Leuzzi V, Opitz JM, Neri G. Two brothers with 22q13 deletion syndrome and features suggestive of the Clark???Baraitser syndrome. Clin Dysmorphol 2005. [DOI: 10.1097/00019605-200507000-00004] [Citation(s) in RCA: 19] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
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