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Items: 1 to 20 of 67

1.

[Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome].

Luo J, Fang D, Qiu W, Xiao B, Fan Y, Ye J, Han L, Zhang H, Yu Y, Liang L, Gu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):361-365. doi: 10.3760/cma.j.issn.1003-9406.2018.03.012. Chinese.

PMID:
29896732
2.

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S, Siper PM, Durkin A, Weissman J, Muratet F, Halpern D, Trelles MDP, Frank Y, Lozano R, Wang AT, Holder JL Jr, Betancur C, Buxbaum JD, Kolevzon A.

Mol Autism. 2018 Apr 27;9:31. doi: 10.1186/s13229-018-0205-9. eCollection 2018.

3.

Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.

Kiyota K, Yoshiura KI, Houbara R, Miyahara H, Korematsu S, Ihara K.

Eur J Med Genet. 2018 Apr 17. pii: S1769-7212(17)30349-X. doi: 10.1016/j.ejmg.2018.04.008. [Epub ahead of print]

PMID:
29673649
4.

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC.

J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29.

5.

Shank3-deficient rats exhibit degraded cortical responses to sound.

Engineer CT, Rahebi KC, Borland MS, Buell EP, Im KW, Wilson LG, Sharma P, Vanneste S, Harony-Nicolas H, Buxbaum JD, Kilgard MP.

Autism Res. 2018 Jan;11(1):59-68. doi: 10.1002/aur.1883. Epub 2017 Oct 20.

PMID:
29052348
6.

Clinical characterization of novel chromosome 22q13 microdeletions.

Ha JF, Ahmad A, Lesperance MM.

Int J Pediatr Otorhinolaryngol. 2017 Apr;95:121-126. doi: 10.1016/j.ijporl.2016.12.008. Epub 2016 Dec 23.

PMID:
28576520
7.

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).

Reierson G, Bernstein J, Froehlich-Santino W, Urban A, Purmann C, Berquist S, Jordan J, O'Hara R, Hallmayer J.

J Psychiatr Res. 2017 Aug;91:139-144. doi: 10.1016/j.jpsychires.2017.03.010. Epub 2017 Mar 16.

PMID:
28346892
8.

Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder.

Rankine J, Li E, Lurie S, Rieger H, Fourie E, Siper PM, Wang AT, Buxbaum JD, Kolevzon A.

J Autism Dev Disord. 2017 Jun;47(6):1605-1617. doi: 10.1007/s10803-017-3082-8.

PMID:
28255759
9.

Clinical and genomic evaluation of a Chinese patient with a novel deletion associated with Phelan-McDermid syndrome.

Lei D, Li S, Banerjee S, Zhang H, Li C, Hou S, Chen D, Yan H, Li H, Peng HH, Liu S, Zhang X, Peng Z, Wang J, Yang H, Huang H, Wu J.

Oncotarget. 2016 Dec 6;7(49):80327-80335. doi: 10.18632/oncotarget.12552.

10.

Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.

Naoufal R, Legendre M, Couet D, Gilbert-Dussardier B, Kitzis A, Bilan F, Harbuz R.

Eur J Med Genet. 2016 Sep;59(9):483-7. doi: 10.1016/j.ejmg.2016.07.001. Epub 2016 Jul 21.

PMID:
27452446
11.

22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound.

Chen CP, Chang TY, Wang LK, Chern SR, Wu PS, Chen YN, Chen SW, Chen WL, Wang W.

Taiwan J Obstet Gynecol. 2016 Jun;55(3):455-6. doi: 10.1016/j.tjog.2016.05.003. No abstract available.

12.

Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication.

Giannakopoulos A, Fryssira H, Tzetis M, Xaidara A, Kanaka-Gantenbein C.

J Pediatr Endocrinol Metab. 2016 Nov 1;29(11):1307-1311. doi: 10.1515/jpem-2015-0484.

PMID:
27235670
13.

Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.

Zwanenburg RJ, Ruiter SA, van den Heuvel ER, Flapper BC, Van Ravenswaaij-Arts CM.

J Neurodev Disord. 2016 Apr 26;8:16. doi: 10.1186/s11689-016-9150-0. eCollection 2016.

14.

Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome.

Mieses AM, Tavassoli T, Li E, Soorya L, Lurie S, Wang AT, Siper PM, Kolevzon A.

J Autism Dev Disord. 2016 Jul;46(7):2508-13. doi: 10.1007/s10803-016-2754-0.

PMID:
26914612
15.

Deletion syndrome 22q13: what the dentist should know to manage children with Phelan-McDermid syndrome effectively.

Ivanoff C, Ivanoff AE.

J Tenn Dent Assoc. 2014 Spring-Summer;94(1):15-8; quiz 19-20.

PMID:
25241497
16.

Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22.

Cho EH, Park JB, Kim JK.

Korean J Pediatr. 2014 Jul;57(7):333-6. doi: 10.3345/kjp.2014.57.7.333. Epub 2014 Jul 23.

17.

Seizures and EEG pattern in the 22q13.3 deletion syndrome: clinical report of six Italian cases.

Figura MG, Coppola A, Bottitta M, Calabrese G, Grillo L, Luciano D, Del Gaudio L, Torniero C, Striano S, Elia M.

Seizure. 2014 Oct;23(9):774-9. doi: 10.1016/j.seizure.2014.06.008. Epub 2014 Jul 1.

18.

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

Guilherme RS, Soares KC, Simioni M, Vieira TP, Gil-da-Silva-Lopes VL, Kim CA, Brunoni D, Spinner NB, Conlin LK, Christofolini DM, Kulikowski LD, Steiner CE, Melaragno MI.

Am J Med Genet A. 2014 Jul;164A(7):1659-65. doi: 10.1002/ajmg.a.36512. Epub 2014 Apr 3. Review.

PMID:
24700634
19.

Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.

Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC, Phelan K, DuPont BR.

Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31.

PMID:
24481935
20.

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.

Simenson K, Õiglane-Shlik E, Teek R, Kuuse K, Õunap K.

Am J Med Genet A. 2014 Mar;164A(3):806-9. doi: 10.1002/ajmg.a.36358. Epub 2013 Dec 20.

PMID:
24375995

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