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Items: 1 to 20 of 121

1.

Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome.

Farrera A, Villanueva M, Vizcaíno A, Medina-Bravo P, Balderrábano-Saucedo N, Rives M, Cruz D, Hernández-Carbajal E, Granados-Riveron J, Sánchez-Urbina R.

Head Face Med. 2019 Dec 11;15(1):29. doi: 10.1186/s13005-019-0213-9.

2.

Dynamic Functional Connectivity: A New Perspective on 22q11.2 Deletion Syndrome and Psychosis.

Schmitt JE.

Biol Psychiatry Cogn Neurosci Neuroimaging. 2019 Oct;4(10):852-853. doi: 10.1016/j.bpsc.2019.08.002. No abstract available.

PMID:
31590721
3.

The Clinical Utility of Flexion-extension Cervical Spine MRI in 22q11.2 Deletion Syndrome.

Kolman SE, Ohara SY, Bhatia A, Feygin T, Colo D, Baldwin KD, Mcdonald-Mcginn D, Spiegel DA.

J Pediatr Orthop. 2019 Oct;39(9):e674-e679. doi: 10.1097/BPO.0000000000000994.

PMID:
31503223
4.

Tbx1 and Foxi3 genetically interact in the pharyngeal pouch endoderm in a mouse model for 22q11.2 deletion syndrome.

Hasten E, Morrow BE.

PLoS Genet. 2019 Aug 14;15(8):e1008301. doi: 10.1371/journal.pgen.1008301. eCollection 2019 Aug.

5.

Immune system defects in DiGeorge syndrome and association with clinical course.

Nain E, Kiykim A, Ogulur I, Kasap N, Karakoc-Aydiner E, Ozen A, Baris S.

Scand J Immunol. 2019 Nov;90(5):e12809. doi: 10.1111/sji.12809. Epub 2019 Sep 9.

PMID:
31322747
6.

A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report.

Liu XJ, Yan C, Jia JY.

Medicine (Baltimore). 2019 Jun;98(25):e16109. doi: 10.1097/MD.0000000000016109.

7.

Riluzole effectively treats psychotic symptoms and improves cognition in 22q11.2 deletion syndrome: A clinical case.

Vingerhoets C, Tse DHY, van Amelsvoort T.

Eur J Med Genet. 2019 Aug;62(8):103705. doi: 10.1016/j.ejmg.2019.103705. Epub 2019 Jun 20.

PMID:
31229682
8.

Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre.

Wu D, Chen Y, Chen Q, Wang G, Xu X, Peng A, Hao J, He J, Huang L, Dai J.

J Genet. 2019 Jun;98(2). pii: 42.

9.

Shprintzen-Goldberg Syndrome: A Rare Disorder.

Bari A, Sadaqat N, Nawaz N, Bano I.

J Coll Physicians Surg Pak. 2019 Jun;29(6):S41-S42. doi: 10.29271/jcpsp.2019.06.S41.

PMID:
31142417
10.

Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center.

Giardino G, Radwan N, Koletsi P, Morrogh DM, Adams S, Ip W, Worth A, Jones A, Meyer-Parsonson I, Gaspar HB, Gilmour K, Davies EG, Ladomenou F.

Blood. 2019 Jun 13;133(24):2586-2596. doi: 10.1182/blood.2018885244. Epub 2019 Apr 23.

PMID:
31015189
11.

Orthopedic and orthodontic management in a patient with DiGeorge Syndrome and Familial Mediterranean Fever: A case report.

Cazzolla AP, Lacaita MG, Lacarbonara V, Zhurakivska K, De Franco A, Gissi I, Testa NF, Marzo G, Lo Muzio L.

Spec Care Dentist. 2019 May;39(3):340-347. doi: 10.1111/scd.12381. Epub 2019 Apr 22.

PMID:
31008521
12.

Abnormal development of early auditory processing in 22q11.2 Deletion Syndrome.

Cantonas LM, Tomescu MI, Biria M, Jan RK, Schneider M, Eliez S, Rihs TA, Michel CM.

Transl Psychiatry. 2019 Apr 16;9(1):138. doi: 10.1038/s41398-019-0473-y.

13.

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

Mastromoro G, Calcagni G, Versacci P, Putotto C, Chinali M, Lambiase C, Unolt M, Pelliccione E, Anaclerio S, Caprio C, Cioffi S, Bilio M, Baban A, Drago F, Digilio MC, Marino B, Baldini A.

PLoS One. 2019 Apr 1;14(4):e0211170. doi: 10.1371/journal.pone.0211170. eCollection 2019.

14.

Pharyngeal flap using carotid artery mobilization in 22q11.2 deletion syndrome with velopharyngeal insufficiency.

Greenberg M, Caloway C, Hersh C, Ryan D, Goldenberg P, Hartnick C.

Int J Pediatr Otorhinolaryngol. 2019 May;120:130-133. doi: 10.1016/j.ijporl.2019.02.010. Epub 2019 Feb 13.

PMID:
30784809
15.

Characteristics and Outcomes of Heart Transplantation in DiGeorge Syndrome.

Woolman P, Bearl DW, Soslow JH, Dodd DA, Thurm C, Hall M, Feingold B, Godown J.

Pediatr Cardiol. 2019 Apr;40(4):768-775. doi: 10.1007/s00246-019-02063-w. Epub 2019 Feb 7.

PMID:
30729260
16.

Pharyngeal pouch: comparison of surgical treatment with botulinum toxin injection to the cricopharyngeus.

Lau K, Watson MG.

J Laryngol Otol. 2019 Feb;133(2):125-128. doi: 10.1017/S0022215119000124. Epub 2019 Feb 6.

PMID:
30722793
17.

An implicit and reliable neural measure quantifying impaired visual coding of facial expression: evidence from the 22q11.2 deletion syndrome.

Leleu A, Favre E, Yailian A, Fumat H, Klamm J, Amado I, Baudouin JY, Franck N, Demily C.

Transl Psychiatry. 2019 Feb 4;9(1):67. doi: 10.1038/s41398-019-0411-z.

18.

Coexistent TBX1 mutation and chromosomal 20q13.13-q13.2 duplication in an infant with abnormal T-cell receptor rearrangement circle newborn screening results.

Lam JK, Braddock SR, Huddleston CB, Knutsen AP.

Ann Allergy Asthma Immunol. 2019 Feb;122(2):222-223. doi: 10.1016/j.anai.2018.10.020. Epub 2018 Oct 27. No abstract available.

PMID:
30712578
19.

Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results.

Lo LM, Shiau CS, Chen KC, Shaw SWS, Benn P.

Taiwan J Obstet Gynecol. 2019 Jan;58(1):40-42. doi: 10.1016/j.tjog.2018.11.006.

20.

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.

Dantas AG, Santoro ML, Nunes N, de Mello CB, Pimenta LSE, Meloni VA, Soares DCQ, Belangero SN, Carvalheira G, Kim CA, Melaragno MI.

Hum Genet. 2019 Jan;138(1):93-103. doi: 10.1007/s00439-018-01967-6. Epub 2019 Jan 9.

PMID:
30627818

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