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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2007 | 1 |
2013 | 1 |
2014 | 1 |
2015 | 2 |
2016 | 2 |
2024 | 0 |
Search Results
7 results
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Page 1
Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.
Plast Reconstr Surg. 2014 Oct;134(4):748-759. doi: 10.1097/PRS.0000000000000517.
Plast Reconstr Surg. 2014.
PMID: 25357034
Free PMC article.
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL.
Lu W, et al.
PLoS Genet. 2007 May 25;3(5):e80. doi: 10.1371/journal.pgen.0030080.
PLoS Genet. 2007.
PMID: 17530927
Free PMC article.
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Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.
Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y, Sahin M, Zhang C, Lee C, Gusella JF, Talkowski ME.
Tai DJ, et al.
Nat Neurosci. 2016 Mar;19(3):517-22. doi: 10.1038/nn.4235. Epub 2016 Feb 1.
Nat Neurosci. 2016.
PMID: 26829649
Free PMC article.
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MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
Quintero-Rivera F, Xi QJ, Keppler-Noreuil KM, Lee JH, Higgins AW, Anchan RM, Roberts AE, Seong IS, Fan X, Lage K, Lu LY, Tao J, Hu X, Berezney R, Gelb BD, Kamp A, Moskowitz IP, Lacro RV, Lu W, Morton CC, Gusella JF, Maas RL.
Quintero-Rivera F, et al.
Hum Mol Genet. 2015 Apr 15;24(8):2375-89. doi: 10.1093/hmg/ddv004. Epub 2015 Jan 7.
Hum Mol Genet. 2015.
PMID: 25574029
Free PMC article.
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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.
Lindgren AM, Hoyos T, Talkowski ME, Hanscom C, Blumenthal I, Chiang C, Ernst C, Pereira S, Ordulu Z, Clericuzio C, Drautz JM, Rosenfeld JA, Shaffer LG, Velsher L, Pynn T, Vermeesch J, Harris DJ, Gusella JF, Liao EC, Morton CC.
Lindgren AM, et al.
Hum Genet. 2013 May;132(5):537-52. doi: 10.1007/s00439-013-1263-x. Epub 2013 Jan 25.
Hum Genet. 2013.
PMID: 23354975
Free PMC article.
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Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.
Mukherjee K, Ishii K, Pillalamarri V, Kammin T, Atkin JF, Hickey SE, Xi QJ, Zepeda CJ, Gusella JF, Talkowski ME, Morton CC, Maas RL, Liao EC.
Mukherjee K, et al.
Hum Mol Genet. 2016 Apr 1;25(7):1255-70. doi: 10.1093/hmg/ddw006. Epub 2016 Jan 11.
Hum Mol Genet. 2016.
PMID: 26758871
Free PMC article.
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Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.
Macera MJ, Sobrino A, Levy B, Jobanputra V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S, Pillalamarri V, Ordulu Z, Morton CC, Talkowski M, Warburton D.
Macera MJ, et al.
Prenat Diagn. 2015 Mar;35(3):299-301. doi: 10.1002/pd.4456. Epub 2015 Feb 4.
Prenat Diagn. 2015.
PMID: 25043231
Free PMC article.
No abstract available.
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