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Items: 1 to 20 of 105

1.

Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome.

Cheung EN, George SR, Andrade DM, Chow EW, Silversides CK, Bassett AS.

Genet Med. 2014 Jan;16(1):40-4. doi: 10.1038/gim.2013.71. Epub 2013 Jun 13.

2.

22q11.2 deletion syndrome lowers seizure threshold in adult patients without epilepsy.

Wither RG, Borlot F, MacDonald A, Butcher NJ, Chow EWC, Bassett AS, Andrade DM.

Epilepsia. 2017 Jun;58(6):1095-1101. doi: 10.1111/epi.13748. Epub 2017 Apr 27.

PMID:
28448680
3.

Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

Cascella M, Muzio MR.

Rev Chil Pediatr. 2015 Jul-Aug;86(4):283-6. doi: 10.1016/j.rchipe.2015.06.019. Epub 2015 Sep 8.

4.

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

Vergaelen E, Swillen A, Van Esch H, Claes S, Van Goethem G, Devriendt K.

Eur J Med Genet. 2015 Apr;58(4):244-8. doi: 10.1016/j.ejmg.2015.01.008. Epub 2015 Feb 3.

PMID:
25655469
5.

Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome).

Roubertie A, Semprino M, Chaze AM, Rivier F, Humbertclaude V, Cheminal R, Lefort G, Echenne B.

Brain Dev. 2001 Dec;23(8):810-4.

PMID:
11720799
6.

A patient with DiGeorge syndrome with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy.

Kinoshita H, Kokudo T, Ide T, Kondo Y, Mori T, Homma Y, Yasuda M, Tomiyama J, Yakushiji F.

Seizure. 2010 Jun;19(5):303-5. doi: 10.1016/j.seizure.2010.04.005. Epub 2010 Apr 28.

7.

Prevalence of hypocalcaemia and its associated features in 22q11ยท2 deletion syndrome.

Cheung EN, George SR, Costain GA, Andrade DM, Chow EW, Silversides CK, Bassett AS.

Clin Endocrinol (Oxf). 2014 Aug;81(2):190-6. doi: 10.1111/cen.12466. Epub 2014 May 27.

8.

[Neurocognitive and psychiatric management of the 22q11.2 deletion syndrome].

Demily C, Rossi M, Schneider M, Edery P, Leleu A, d'Amato T, Franck N, Eliez S.

Encephale. 2015 Jun;41(3):266-73. doi: 10.1016/j.encep.2014.10.005. Epub 2014 Dec 16. Review. French.

PMID:
25523123
9.
10.

The use of two different MLPA kits in 22q11.2 deletion syndrome.

Evers LJ, Engelen JJ, Houben LM, Curfs LM, van Amelsvoort TA.

Eur J Med Genet. 2016 Apr;59(4):183-8. doi: 10.1016/j.ejmg.2016.02.009. Epub 2016 Feb 24.

11.

Delayed diagnosis of 22q11.2 deletion syndrome in an adult Chinese lady.

Shea YF, Lee CH, Gill H, Chow WS, Lam YM, Luk HM, Lam ST, Chu LW.

Chin Med J (Engl). 2012 Aug;125(16):2945-7.

PMID:
22932096
12.

[Transient neonatal hypocalcemia. Onset Manifestation of the 22q11.2 deletion syndrome].

Pusceddu M, Bertone A, Campra D, Pontoriero D, Guala A.

Minerva Pediatr. 2002 Aug;54(4):343-5. Italian. No abstract available.

PMID:
12131871
13.

Psychopathology in adults with 22q11 deletion syndrome and moderate and severe intellectual disability.

Evers LJ, van Amelsvoort TA, Candel MJ, Boer H, Engelen JJ, Curfs LM.

J Intellect Disabil Res. 2014 Oct;58(10):915-25. doi: 10.1111/jir.12117. Epub 2014 Feb 17.

PMID:
24528781
14.

Hypocalcemia in a patient with osteosarcoma and 22q11.2 deletion syndrome.

Mussai FJ, Cunningham LC, Rezvani G, Stratakis CA, Reynolds JC, Nesterova G, Henshaw RM, Levine JE, Helman LJ, Arthur DC, Kim SY.

J Pediatr Hematol Oncol. 2008 Aug;30(8):612-7. doi: 10.1097/MPH.0b013e318168f072.

15.

Newborn screening programs: should 22q11 deletion syndrome be added?

Bales AM, Zaleski CA, McPherson EW.

Genet Med. 2010 Mar;12(3):135-44. doi: 10.1097/GIM.0b013e3181cdeb9a. Review.

PMID:
20071995
16.

Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome.

Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B.

Dev Disabil Res Rev. 2008;14(1):35-42. doi: 10.1002/ddrr.6. Review.

PMID:
18636635
17.

An adult case of 22q11.2 deletion syndrome diagnosed in a 36-year-old woman with hypocalcemia caused by hypoparathyroidism and Hashimoto's thyroiditis.

Nakada Y, Terui K, Kageyama K, Tsushima Y, Murakami H, Soma Y, Nigawara T, Sakihara S.

Intern Med. 2013;52(12):1365-8.

18.

Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.

Webber SA, Hatchwell E, Barber JC, Daubeney PE, Crolla JA, Salmon AP, Keeton BR, Temple IK, Dennis NR.

J Pediatr. 1996 Jul;129(1):26-32.

PMID:
8757559
19.

[Neonatal hypocalcaemic dilated myocardiopathy due to a 22q11 microdeletion].

Goulet M, Rio M, Jacquette A, Ladouceur M, Bonnet D.

Arch Mal Coeur Vaiss. 2006 May;99(5):520-2. French.

PMID:
16802747
20.

Evaluation of parathyroid gland function using sodium bicarbonate infusion test for 22q11.2 deletion syndrome.

Nagasaki K, Iwasaki Y, Ogawa Y, Kikuchi T, Uchiyama M.

Horm Res Paediatr. 2011;75(1):14-8. doi: 10.1159/000315904. Epub 2010 Jul 21.

PMID:
20664180

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