Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 879

1.

Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children.

Dastamani A, Malhorta N, Güemes M, Morgan K, Rees CM, Dattani M, Shah P.

Horm Res Paediatr. 2018 Aug 9:1-5. doi: 10.1159/000491647. [Epub ahead of print]

PMID:
30092575
2.

LETM1 couples mitochondrial DNA metabolism and nutrient preference.

Durigon R, Mitchell AL, Jones AW, Manole A, Mennuni M, Hirst EM, Houlden H, Maragni G, Lattante S, Doronzio PN, Dalla Rosa I, Zollino M, Holt IJ, Spinazzola A.

EMBO Mol Med. 2018 Jul 16. pii: e8550. doi: 10.15252/emmm.201708550. [Epub ahead of print]

3.

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

Derar N, Al-Hassnan ZN, Al-Owain M, Monies D, Abouelhoda M, Meyer BF, Moghrabi N, Alkuraya FS.

Genet Med. 2018 Jun 11. doi: 10.1038/s41436-018-0014-8. [Epub ahead of print]

PMID:
29892088
4.

Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.

Zollino M, Doronzio PN.

J Hum Genet. 2018 Aug;63(8):859-861. doi: 10.1038/s10038-018-0476-1. Epub 2018 Jun 8. No abstract available.

PMID:
29884796
5.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.

Xing Y, Holder JL Jr, Liu Y, Yuan M, Sun Q, Qu X, Deng L, Zhou J, Yang Y, Guo M, Cheung SW, Sun L.

Arch Gynecol Obstet. 2018 Aug;298(2):289-295. doi: 10.1007/s00404-018-4798-1. Epub 2018 May 28.

PMID:
29808250
6.

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.

Lozier ER, Konovalov FA, Kanivets IV, Pyankov DV, Koshkin PA, Baleva LS, Sipyagina AE, Yakusheva EN, Kuchina AE, Korostelev SA.

J Hum Genet. 2018 Jul;63(8):919-922. doi: 10.1038/s10038-018-0464-5. Epub 2018 May 14.

PMID:
29760529
7.

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.

8.

Classifying dysmorphic syndromes by using artificial neural network based hierarchical decision tree.

Özdemir ME, Telatar Z, Eroğul O, Tunca Y.

Australas Phys Eng Sci Med. 2018 Jun;41(2):451-461. doi: 10.1007/s13246-018-0643-x. Epub 2018 May 1.

PMID:
29717432
9.

Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome.

Siew JX, Yap F.

Endocrinol Diabetes Metab Case Rep. 2018 Apr 12;2018. pii: 18-0001. doi: 10.1530/EDM-18-0001. eCollection 2018.

10.

Prenatal diagnosis of Wolf-Hirschhorn syndrome at the first trimester using chromosomal microarray analysis.

Lin MF, Huang LY, Yang YD, Li DZ.

J Obstet Gynaecol. 2018 Apr 11:1-3. doi: 10.1080/01443615.2018.1448765. [Epub ahead of print] No abstract available.

PMID:
29635948
11.

Prenatal diagnosis of Wolf-Hirschhorn syndrome: Ultrasonography and molecular karyotyping results.

Zhen L, Fan SS, Huang LY, Pan M, Han J, Yang X, Li DZ.

Eur J Obstet Gynecol Reprod Biol. 2018 Jun;225:19-21. doi: 10.1016/j.ejogrb.2018.03.047. Epub 2018 Mar 31.

PMID:
29626710
12.
13.

A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome.

Ho KS, Markham LM, Twede H, Lortz A, Olson LM, Sheng X, Weng C, Wassman ER 3rd, Newcomb T, Wassman ER, Carey JC, Battaglia A.

Epilepsy Behav. 2018 Apr;81:55-61. doi: 10.1016/j.yebeh.2017.12.008. Epub 2018 Mar 20.

14.

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.

15.

Detecting TF-miRNA-gene network based modules for 5hmC and 5mC brain samples: a intra- and inter-species case-study between human and rhesus.

Maulik U, Sen S, Mallik S, Bandyopadhyay S.

BMC Genet. 2018 Jan 22;19(1):9. doi: 10.1186/s12863-017-0574-7.

16.

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.

17.

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.

Amirhassankhani S, Lloyd MS.

J Craniofac Surg. 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. Review.

PMID:
29239919
18.

Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome.

Deeb A.

Case Rep Endocrinol. 2017;2017:3892467. doi: 10.1155/2017/3892467. Epub 2017 Oct 24.

19.

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

Ali MH, Azar NF, Aakalu V, Chau FY, Abbasian J, Setabutr P, Maumenee IH.

Ophthalmic Genet. 2018 Apr;39(2):271-274. doi: 10.1080/13816810.2017.1408850. Epub 2017 Dec 4.

20.

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

Supplemental Content

Loading ...
Support Center