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1.

Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: A case report and literature review.

Yue F, Jiang Y, Yu Y, Yang X, Zhang H, Liu R, Wang R.

Medicine (Baltimore). 2018 Nov;97(45):e13094. doi: 10.1097/MD.0000000000013094. Review.

2.

A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome.

Yang Y, Wang X, Zhao Y, Qin M.

Oral Dis. 2018 Oct;24(7):1247-1254. doi: 10.1111/odi.12894. Epub 2018 Jun 11.

PMID:
29774977
3.

Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.

Corrêa T, Mergener R, Leite JCL, Galera MF, Moreira LMA, Vargas JE, Riegel M.

Biomed Res Int. 2018 Mar 12;2018:5436187. doi: 10.1155/2018/5436187. eCollection 2018.

4.

A boy with 13.34-Mb interstitial deletion of chromosome 4p15: A new case report and review of the literature.

Mitroi AF, Aschie M, Apostol A, Brinzan C, Cozaru G, Mitroi AN.

Medicine (Baltimore). 2017 Dec;96(51):e9301. doi: 10.1097/MD.0000000000009301. Review.

5.

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.

Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Chen LF, Wang W.

Taiwan J Obstet Gynecol. 2017 Dec;56(6):821-826. doi: 10.1016/j.tjog.2017.10.021.

6.

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Gatto A, Ferrara P, Leoni C, Onesimo R, Zollino M, Emma F, Zampino G.

Am J Med Genet A. 2018 Feb;176(2):409-414. doi: 10.1002/ajmg.a.38554. Epub 2017 Nov 28.

PMID:
29193639
7.

4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

Vande Perre P, Zazo Seco C, Patat O, Bouneau L, Vigouroux A, Bourgeois D, El Hout S, Chassaing N, Calvas P.

Eur J Med Genet. 2018 Feb;61(2):72-78. doi: 10.1016/j.ejmg.2017.10.018. Epub 2017 Oct 31.

PMID:
29100920
8.

Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.

Fu F, Deng Q, Lei TY, Li R, Jing XY, Yang X, Liao C.

Arch Gynecol Obstet. 2017 Nov;296(5):929-940. doi: 10.1007/s00404-017-4518-2. Epub 2017 Sep 13.

PMID:
28905115
9.

Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.

Wu D, Zhang H, Hou Q, Wang H, Wang T, Liao S.

Mol Med Rep. 2017 Nov;16(5):6222-6227. doi: 10.3892/mmr.2017.7390. Epub 2017 Aug 29.

PMID:
28901405
10.

[Wolf-Hirschhorn syndrome: just a citation omission? Reply].

Blanco-Lago R.

Rev Neurol. 2017 Sep 1;65(5):239-240. Spanish.

11.

[Wolf-Hirschhorn syndrome: just a citation omission?]

Rivera H.

Rev Neurol. 2017 Sep 1;65(5):239. Spanish.

12.

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report.

Cascella M, Muzio MR.

Rev Chil Pediatr. 2017 Jun;88(3):411-416. doi: 10.4067/S0370-41062017000300016.

13.

Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality.

Chen CP, Chern SR, Chen YN, Chen SW, Wu PS, Yang CW, Lee CC, Lee MS, Pan CW, Wang W.

Taiwan J Obstet Gynecol. 2017 Apr;56(2):217-223. doi: 10.1016/j.tjog.2017.01.002.

14.

De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.

Sagar A, Pinto D, Najjar F, Guter SJ, Macmillan C, Cook EH.

Am J Med Genet A. 2017 Jun;173(6):1656-1662. doi: 10.1002/ajmg.a.38171. Epub 2017 Apr 13.

15.

Treatment of intractable seizure in Wolf-Hirschhorn syndrome with bromide.

Lee IC, Hong SY.

Brain Dev. 2017 Aug;39(7):633. doi: 10.1016/j.braindev.2017.03.022. Epub 2017 Apr 1. No abstract available.

PMID:
28377151
16.

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.

Zarrei M, Merico D, Kellam B, Engchuan W, Scriver T, Jokhan R, Wilson MD, Parr J, Lemire EG, Stavropoulos DJ, Scherer SW.

Am J Med Genet A. 2017 May;173(5):1287-1293. doi: 10.1002/ajmg.a.38176. Epub 2017 Apr 3.

PMID:
28371330
17.

Hepatic Malignancy in an Infant with Wolf-Hirschhorn Syndrome.

Rutter S, Morotti RA, Peterec S, Gallagher PG.

Fetal Pediatr Pathol. 2017 Jun;36(3):256-262. doi: 10.1080/15513815.2017.1293201. Epub 2017 Mar 7.

PMID:
28266898
18.

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.

Maldžienė Ž, Preikšaitienė E, Ignotienė S, Kapitanova N, Utkus A, Kučinskas V.

Cytogenet Genome Res. 2017;151(1):5-9. doi: 10.1159/000456695. Epub 2017 Feb 23.

PMID:
28226328
19.

[Prenatal diagnosis of a case with 46,XX,del(4),dup(21)].

Zhang L, Ren M, Song G, Liu X, Zhang J, Zhang X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):50-52. doi: 10.3760/cma.j.issn.1003-9406.2017.01.011. Chinese.

PMID:
28186593
20.

Chromosome 1 amplification has similar prognostic value to del(17p13) and t(4;14)(p16;q32) in multiple myeloma patients: analysis of real-life data from the Polish Myeloma Study Group.

Grzasko N, Hajek R, Hus M, Chocholska S, Morawska M, Giannopoulos K, Czarnocki K, Druzd-Sitek A, Pienkowska-Grela B, Rygier J, Usnarska-Zubkiewicz L, Dytfeld D, Kubicki T, Jurczyszyn A, Korpysz M, Dmoszynska A.

Leuk Lymphoma. 2017 Sep;58(9):1-15. doi: 10.1080/10428194.2016.1272684. Epub 2017 Jan 16. Erratum in: Leuk Lymphoma. 2017 Oct;58(10):2518.

PMID:
28092996

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