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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1986 1
1994 1
1997 1
1998 3
1999 1
2000 1
2001 3
2004 1
2005 1
2009 1
2010 1
2012 3
2013 3
2015 1
2016 2
2017 1
2018 1
2019 1
2020 1
2022 1
2024 1

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28 results

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Page 1
Retinoblastoma.
Ortiz MV, Dunkel IJ. Ortiz MV, et al. J Child Neurol. 2016 Feb;31(2):227-36. doi: 10.1177/0883073815587943. Epub 2015 May 28. J Child Neurol. 2016. PMID: 26023180 Review.
The pathognomonic molecular aberration is a loss of function mutation in the RB1 gene on chromosome 13q. The degree of tumor involvement within the eye is defined by its group. Grouping was historically done with Reese-Ellsworth System. ...
The pathognomonic molecular aberration is a loss of function mutation in the RB1 gene on chromosome 13q. The degree of tumor i …
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR. Bench AJ, et al. Best Pract Res Clin Haematol. 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. Best Pract Res Clin Haematol. 2001. PMID: 11640868 Review.
Consistent acquired changes seen at diagnosis include deletion of the long arm of chromosome 20, del(13q), trisomy 8 and 9 and duplication of parts of 1q. ...Molecular mapping of 20q deletions and, to some extent, 13q deletions has identified a number …
Consistent acquired changes seen at diagnosis include deletion of the long arm of chromosome 20, del(13q), trisomy 8 an …
PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW.
Puvabanditsin S, Herrera-Garcia G, Gengel N, Hussein K, February M, Mayne J, Mehta R. Puvabanditsin S, et al. Genet Couns. 2016;27(1):35-41. Genet Couns. 2016. PMID: 27192890 Review.
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial trisomy of the short arm of chromosome 4, intrauterine growth retardation, and multiple anomalies including microcephaly, colpocep …
We report on a term first born dichorionic-diamniotic twin with deletion of the distal long arm of chromosome 13, partial …
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L. Mocquard C, et al. Neurochirurgie. 2019 Nov;65(5):246-251. doi: 10.1016/j.neuchi.2019.09.014. Epub 2019 Sep 27. Neurochirurgie. 2019. PMID: 31568780 Free article. Review.
Neurodevelopmental disorders are frequent in syndromic trigonocephaly and not particularly rare in non-syndromic cases (up to 34%). Developmental retardation (speech, motor or global) was almost always present in children exposed to valproic acid. Chromosomal abnorm …
Neurodevelopmental disorders are frequent in syndromic trigonocephaly and not particularly rare in non-syndromic cases (up to …
[Monosomy 13q syndrome].
Tsukino R, Sasaki M. Tsukino R, et al. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):329-31. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057249 Review. Japanese. No abstract available.
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.
Kotani T, Tsuda H, Ito Y, Nakamura N, Ushida T, Imai K, Iitani Y, Fuma K, Muramatsu Y, Hayakawa M, Kajiyama H. Kotani T, et al. J Med Case Rep. 2022 Dec 27;16(1):481. doi: 10.1186/s13256-022-03713-z. J Med Case Rep. 2022. PMID: 36572904 Free PMC article. Review.
BACKGROUND: Chromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. ...Furthermore, the possible involvement of IRS2, COLA1, and COLA2 in eye malformation were id …
BACKGROUND: Chromosome 13q deletion syndrome shows variable clinical features related to the different potential …
Distal 13q Deletion Syndrome and the VACTERL association: case report, literature review, and possible implications.
Walsh LE, Vance GH, Weaver DD. Walsh LE, et al. Am J Med Genet. 2001 Jan 15;98(2):137-44. doi: 10.1002/1096-8628(20010115)98:2<137::aid-ajmg1022>3.0.co;2-5. Am J Med Genet. 2001. PMID: 11223849 Review.
His cluster of malformations strengthens the argument that distal 13q deletion is a cause for VACTERL association, and that this causal relationship implies a syndromic form of VACTERL. In addition, this case and those ascertained from the literature suggest …
His cluster of malformations strengthens the argument that distal 13q deletion is a cause for VACTERL association, and that th …
BCL2 and miR-15/16: from gene discovery to treatment.
Pekarsky Y, Balatti V, Croce CM. Pekarsky Y, et al. Cell Death Differ. 2018 Jan;25(1):21-26. doi: 10.1038/cdd.2017.159. Epub 2017 Oct 6. Cell Death Differ. 2018. PMID: 28984869 Free PMC article. Review.
In 1984, we investigated the t(14;18) chromosomal translocations that frequently occur in patients with follicular lymphoma. We first identified a locus on chromosome 18 involved in these translocations with the chromosome 14 containing the immunoglobulin heavy chai …
In 1984, we investigated the t(14;18) chromosomal translocations that frequently occur in patients with follicular lymphoma. We first identi …
First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review.
Manolakos E, Peitsidis P, Garas A, Vetro A, Eleftheriades M, Petersen MB, Papoulidis I. Manolakos E, et al. Clin Exp Obstet Gynecol. 2012;39(1):118-21. Clin Exp Obstet Gynecol. 2012. PMID: 22675970 Review.
13q-syndrome is a rare chromosomal disorder caused by partial deletion of the long arm of chromosome 13 with variable phenotypic presentation. Further sonographic features involve fetal growth restriction, bradycardia, encephalocele, facial dysm …
13q-syndrome is a rare chromosomal disorder caused by partial deletion of the long arm of chromosome 13 w …
Cytogenetic and genetic pathways in therapy-related acute myeloid leukemia.
Qian Z, Joslin JM, Tennant TR, Reshmi SC, Young DJ, Stoddart A, Larson RA, Le Beau MM. Qian Z, et al. Chem Biol Interact. 2010 Mar 19;184(1-2):50-7. doi: 10.1016/j.cbi.2009.11.025. Epub 2009 Dec 1. Chem Biol Interact. 2010. PMID: 19958752 Free PMC article. Review.
The most common subtype of t-AML ( approximately 75% of cases) develops after exposure to alkylating agents, and is characterized by loss or deletion of chromosome 5 and/or 7 [-5/del(5q), -7/del(7q)], and a poor outcome (median survival 8 months). In the University …
The most common subtype of t-AML ( approximately 75% of cases) develops after exposure to alkylating agents, and is characterized by loss or …
28 results