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Items: 1 to 20 of 65

1.

Aortic, Right Arches.

Law M, Bhimji S.

StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2017 Jun-.
2017 May 22.

2.

Social cognitive impairment in 22q11 deletion syndrome: A review.

Norkett EM, Lincoln SH, Gonzalez-Heydrich J, D'Angelo EJ.

Psychiatry Res. 2017 Jul;253:99-106. doi: 10.1016/j.psychres.2017.01.103. Epub 2017 Feb 23. Review.

PMID:
28364592
3.

Tbx1: Transcriptional and Developmental Functions.

Baldini A, Fulcoli FG, Illingworth E.

Curr Top Dev Biol. 2017;122:223-243. doi: 10.1016/bs.ctdb.2016.08.002. Epub 2016 Sep 1. Review.

PMID:
28057265
4.

Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty.

Burke S, Maramaldi P.

Fetal Pediatr Pathol. 2017 Feb;36(1):33-41. doi: 10.1080/15513815.2016.1231248. Epub 2016 Oct 12. Review.

PMID:
27732116
5.

Cognitive phenotype and psychiatric disorder in 22q11.2 deletion syndrome: A review.

Biswas AB, Furniss F.

Res Dev Disabil. 2016 Jun-Jul;53-54:242-57. doi: 10.1016/j.ridd.2016.02.010. Epub 2016 Mar 2. Review.

PMID:
26942704
6.

The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome.

Swillen A.

Curr Opin Psychiatry. 2016 Mar;29(2):133-7. doi: 10.1097/YCO.0000000000000231. Review.

7.

Management of Interrupted Aortic Arch.

Jonas RA.

Semin Thorac Cardiovasc Surg. 2015 Summer;27(2):177-88. doi: 10.1053/j.semtcvs.2015.04.003. Epub 2015 Jun 14. Review.

PMID:
26686446
8.

Fetuses with right aortic arch: a multicenter cohort study and meta-analysis.

D'Antonio F, Khalil A, Zidere V, Carvalho JS.

Ultrasound Obstet Gynecol. 2016 Apr;47(4):423-32. doi: 10.1002/uog.15805. Epub 2016 Mar 16. Review.

9.

Regulating Craniofacial Development at the 3' End: MicroRNAs and Their Function in Facial Morphogenesis.

Tavares AL, Artinger KB, Clouthier DE.

Curr Top Dev Biol. 2015;115:335-75. doi: 10.1016/bs.ctdb.2015.08.001. Epub 2015 Oct 1. Review.

PMID:
26589932
10.

[22q11.2DS Syndrome as a Genetic Subtype of Schizophrenia].

Huertas-Rodríguez CK, Payán-Gómez C, Forero-Castro RM.

Rev Colomb Psiquiatr. 2015 Jan-Mar;44(1):50-60. doi: 10.1016/j.rcp.2014.09.002. Epub 2014 Oct 25. Review. Spanish.

PMID:
26578219
11.

Hard to swallow: Developmental biological insights into pediatric dysphagia.

LaMantia AS, Moody SA, Maynard TM, Karpinski BA, Zohn IE, Mendelowitz D, Lee NH, Popratiloff A.

Dev Biol. 2016 Jan 15;409(2):329-42. doi: 10.1016/j.ydbio.2015.09.024. Epub 2015 Nov 7. Review.

12.

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome.

Tang KL, Antshel KM, Fremont WP, Kates WR.

J Dev Behav Pediatr. 2015 Oct;36(8):639-50. doi: 10.1097/DBP.0000000000000210. Review.

13.

22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.

Burnside RD.

Cytogenet Genome Res. 2015;146(2):89-99. doi: 10.1159/000438708. Epub 2015 Aug 8. Review.

PMID:
26278718
14.

Severe combined immunodeficiency--an update.

Cirillo E, Giardino G, Gallo V, D'Assante R, Grasso F, Romano R, Di Lillo C, Galasso G, Pignata C.

Ann N Y Acad Sci. 2015 Nov;1356:90-106. doi: 10.1111/nyas.12849. Epub 2015 Jul 31. Review.

PMID:
26235889
15.

Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome.

Rall K, Eisenbeis S, Henninger V, Henes M, Wallwiener D, Bonin M, Brucker S.

J Pediatr Adolesc Gynecol. 2015 Oct;28(5):362-8. doi: 10.1016/j.jpag.2014.07.019. Epub 2014 Nov 11. Review.

PMID:
26148785
16.

Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome.

Digilio MC, Versacci P, Bernardini L, Novelli A, Marino B, Dallapiccola B.

Eur J Med Genet. 2015 Aug;58(8):406-8. doi: 10.1016/j.ejmg.2015.05.005. Epub 2015 Jul 2. Review. No abstract available.

PMID:
26141236
17.

A Practical Approach to Hypocalcaemia in Children.

Shaw NJ.

Endocr Dev. 2015;28:84-100. doi: 10.1159/000380997. Epub 2015 Jun 12. Review.

PMID:
26138837
18.

22q11 deletion syndrome: current perspective.

Hacıhamdioğlu B, Hacıhamdioğlu D, Delil K.

Appl Clin Genet. 2015 May 18;8:123-32. doi: 10.2147/TACG.S82105. eCollection 2015. Review.

19.

Developmental trajectories in 22q11.2 deletion.

Swillen A, McDonald-McGinn D.

Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):172-81. doi: 10.1002/ajmg.c.31435. Epub 2015 May 18. Review.

20.

History and current status of newborn screening for severe combined immunodeficiency.

Kwan A, Puck JM.

Semin Perinatol. 2015 Apr;39(3):194-205. doi: 10.1053/j.semperi.2015.03.004. Epub 2015 Apr 30. Review.

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