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Best matches for "cat eye syndrome":

[Cat eye syndrome]. Bremond-Gignac D et al. J Fr Ophtalmol. (2015)

Cat eye syndrome. Sharma D et al. BMJ Case Rep. (2014)

Severe psychomotor delay in a severe presentation of cat-eye syndrome. Jedraszak G et al. Case Rep Genet. (2015)

Search results

Items: 1 to 20 of 192

1.

[Cytogenetic and molecular genetic analysis of the amniotic fluid cells of a fetus with pseudodicentric isochromosome 22 resulting in partial tetraploidy of 22q].

Shen Y, Kong H, Zeng H, Wu Q, Chen J, Zhou D, Zhang J, Ge Y, Ding F.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):272-275. doi: 10.3760/cma.j.issn.1003-9406.2018.02.029. Chinese.

PMID:
29653009
2.

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.

Bateman MS, Collinson MN, Bunyan DJ, Collins AL, Duncan P, Firth R, Harrison V, Homfray T, Huang S, Kirk B, Lachlan KL, Maloney VK, Barber JCK.

Am J Med Genet A. 2018 Feb;176(2):319-329. doi: 10.1002/ajmg.a.38564. Epub 2017 Dec 1.

PMID:
29194955
3.

Müllerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review.

AlSubaihin A, VanderMeulen J, Harris K, Duck J, McCready E.

J Pediatr Adolesc Gynecol. 2018 Apr;31(2):158-161. doi: 10.1016/j.jpag.2017.09.004. Epub 2017 Sep 14. Review.

PMID:
28919146
4.

GNE-886: A Potent and Selective Inhibitor of the Cat Eye Syndrome Chromosome Region Candidate 2 Bromodomain (CECR2).

Crawford TD, Audia JE, Bellon S, Burdick DJ, Bommi-Reddy A, Côté A, Cummings RT, Duplessis M, Flynn EM, Hewitt M, Huang HR, Jayaram H, Jiang Y, Joshi S, Kiefer JR, Murray J, Nasveschuk CG, Neiss A, Pardo E, Romero FA, Sandy P, Sims RJ 3rd, Tang Y, Taylor AM, Tsui V, Wang J, Wang S, Wang Y, Xu Z, Zawadzke L, Zhu X, Albrecht BK, Magnuson SR, Cochran AG.

ACS Med Chem Lett. 2017 Jun 1;8(7):737-741. doi: 10.1021/acsmedchemlett.7b00132. eCollection 2017 Jul 13.

PMID:
28740608
5.

Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos.

Liehr T, Acquarola N, Pyle K, St-Pierre S, Rinholm M, Bar O, Wilhelm K, Schreyer I.

Clin Genet. 2018 Feb;93(2):378-381. doi: 10.1111/cge.13087. Epub 2017 Nov 29.

PMID:
28661575
6.

CECR1-mediated cross talk between macrophages and vascular mural cells promotes neovascularization in malignant glioma.

Zhu C, Chrifi I, Mustafa D, van der Weiden M, Leenen PJM, Duncker DJ, Kros JM, Cheng C.

Oncogene. 2017 Sep 21;36(38):5356-5368. doi: 10.1038/onc.2017.145. Epub 2017 May 22.

7.

Activation of CECR1 in M2-like TAMs promotes paracrine stimulation-mediated glial tumor progression.

Zhu C, Mustafa D, Zheng PP, van der Weiden M, Sacchetti A, Brandt M, Chrifi I, Tempel D, Leenen PJM, Duncker DJ, Cheng C, Kros JM.

Neuro Oncol. 2017 May 1;19(5):648-659. doi: 10.1093/neuonc/now251.

8.

Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2.

Hashem H, Egler R, Dalal J.

J Pediatr Hematol Oncol. 2017 Jul;39(5):e293-e296. doi: 10.1097/MPH.0000000000000805.

PMID:
28230570
9.

Mycobacterium tuberculosis ESAT6 and CPF10 Induce Adenosine Deaminase 2 mRNA Expression in Monocyte-Derived Macrophages.

Bae MJ, Ryu S, Kim HJ, Cha SI, Kim CH, Lee J.

Tuberc Respir Dis (Seoul). 2017 Jan;80(1):77-82. doi: 10.4046/trd.2017.80.1.77. Epub 2016 Dec 30.

10.

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.

Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Häusler M.

Neuropediatrics. 2017 Apr;48(2):111-114. doi: 10.1055/s-0036-1597611. Epub 2016 Dec 26.

PMID:
28024309
11.

Monogenic polyarteritis: the lesson of ADA2 deficiency.

Caorsi R, Penco F, Schena F, Gattorno M.

Pediatr Rheumatol Online J. 2016 Sep 8;14(1):51. doi: 10.1186/s12969-016-0111-7. Review.

12.

CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert AK, Rösch W, Stein R, Boemers TM, Hirsch K, Marcelis C, Feitz WF, Brusco A, Migone N, Di Grazia M, Moebus S, Nöthen MM, Reutter H, Ludwig M, Draaken M.

BMC Med Genet. 2016 Apr 30;17(1):35. doi: 10.1186/s12881-016-0299-x.

13.

Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.

Nanthapisal S, Murphy C, Omoyinmi E, Hong Y, Standing A, Berg S, Ekelund M, Jolles S, Harper L, Youngstein T, Gilmour K, Klein NJ, Eleftheriou D, Brogan PA.

Arthritis Rheumatol. 2016 Sep;68(9):2314-22. doi: 10.1002/art.39699.

14.

Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22.

Mosallanejad A, Sayarifard F, Hosseinverdi S, Abbasi F, Shabni Mirzaee H, Rezaei N.

Acta Med Iran. 2015 Dec;53(12):782-4.

15.

Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.

Zhang J, Ma D, Wang Y, Cao L, Wu Y, Qiao F, Liu A, Li L, Lin Y, Liu G, Liu C, Hu P, Xu Z.

Mol Cytogenet. 2015 Dec 29;8:100. doi: 10.1186/s13039-015-0209-5. eCollection 2015.

16.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

Jedraszak G, Braun K, Receveur A, Decamp M, Andrieux J, Rabbind Singh A, Copin H, Bremond-Gignac D, Mathieu M, Rochette J, Morin G.

Ann Endocrinol (Paris). 2015 Oct;76(5):629-34. doi: 10.1016/j.ando.2015.02.002. Epub 2015 Oct 27.

PMID:
26518262
17.

Quadricuspid aortic valve and anomalous systemic venous connection in a patient with cat-eye syndrome.

Brugts JJ, Cuypers JA, Polak P, Ouhlous M, van de Woestijne P, Wessels M, Roos-Hesselink J.

Circulation. 2015 Mar 31;131(13):1225-7. doi: 10.1161/CIRCULATIONAHA.114.013290. No abstract available.

18.

[Cat eye syndrome].

Bremond-Gignac D, Morin G, Jedraszak G, Receveur A, Rochette J, Copin H.

J Fr Ophtalmol. 2015 Apr;38(4):368-9. doi: 10.1016/j.jfo.2014.09.016. Epub 2015 Mar 20. French. No abstract available.

19.

Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region.

Tsai MC, Chou YY, Wang JN, Wu JM, Huang CC, Kuo PL, Tsai YS.

Pediatr Neonatol. 2015 Aug;56(4):277-9. doi: 10.1016/j.pedneo.2014.10.009. Epub 2015 Jan 3. No abstract available.

20.

Severe psychomotor delay in a severe presentation of cat-eye syndrome.

Jedraszak G, Receveur A, Andrieux J, Mathieu-Dramard M, Copin H, Morin G.

Case Rep Genet. 2015;2015:943905. doi: 10.1155/2015/943905. Epub 2015 Jan 14.

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