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Items: 1 to 20 of 28

1.

Targeted analysis reveals alteration in pathway in 5p minus individuals.

Furtado DZS, Leite FBVM, Jedlicka LDL, Souza DS, Barreto CN, da Silva HDT, Assunção NA.

Biomed Chromatogr. 2020 Jan;34(1):e4673. doi: 10.1002/bmc.4673. Epub 2020 Jan 2.

PMID:
31385327
2.

Age-related Behavioural Change in Cornelia de Lange and Cri du Chat Syndromes: A Seven Year Follow-up Study.

Cochran L, Welham A, Oliver C, Arshad A, Moss JF.

J Autism Dev Disord. 2019 Jun;49(6):2476-2487. doi: 10.1007/s10803-019-03966-6. Erratum in: J Autism Dev Disord. 2019 May 27;:.

3.

Prenatal diagnosis of 5p deletion syndrome: Report of five cases.

Mak ASL, Ma TWL, Chan KYK, Kan ASY, Tang MHY, Leung KY.

J Obstet Gynaecol Res. 2019 Apr;45(4):923-926. doi: 10.1111/jog.13911.

PMID:
30932301
4.

Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.

Piovani G, Lanzi G, Ferraro RM, Masneri S, Barisani C, Savio G, Giliani SC.

Stem Cell Res. 2019 Mar;35:101393. doi: 10.1016/j.scr.2019.101393. Epub 2019 Jan 26.

5.

Prenatal sonographic diagnosis of isolated fetal ascites in cri-du-chat (5p-) syndrome: A case report.

Cardoso MC, Raposo MI, Ormonde M, Monteiro R, Sampaio A, Cosme P, Mota-Vieira L.

J Clin Ultrasound. 2019 May;47(4):232-234. doi: 10.1002/jcu.22679. Epub 2018 Dec 4.

PMID:
30511740
6.

The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort.

Sanders CD, Leigh MW, Chao KC, Weck KE, King I, Wolf WE, Campbell DJ, Knowles MR, Zariwala MA, Shapiro AJ.

Pediatr Pulmonol. 2018 Nov;53(11):1565-1573. doi: 10.1002/ppul.24159. Epub 2018 Sep 20.

PMID:
30238669
7.

Effects of Oral Stimulation Intervention in Newborn Babies with Cri du Chat Syndrome: Single-Subject Research Design.

Kim MK, Kim DJ.

Occup Ther Int. 2018 May 8;2018:6573508. doi: 10.1155/2018/6573508. eCollection 2018.

8.

Novel ocular findings with 5p deletion and partial trisomy of distal 4q.

Lin S, Rawlins L, Turner C, Doyle E, Sleep T.

Can J Ophthalmol. 2018 Jun;53(3):e89-e90. doi: 10.1016/j.jcjo.2017.09.010. Epub 2017 Oct 27. No abstract available.

PMID:
29784183
9.

Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study.

Adams D, Clarke S, Griffith G, Howlin P, Moss J, Petty J, Tunnicliffe P, Oliver C.

Am J Intellect Dev Disabil. 2018 May;123(3):241-253. doi: 10.1352/1944-7558-123.3.241.

PMID:
29671635
10.

Cri du Chat syndrome: Characteristics of 73 Brazilian patients.

Honjo RS, Mello CB, Pimenta LSE, Nuñes-Vaca EC, Benedetto LM, Khoury RBF, Befi-Lopes DM, Kim CA.

J Intellect Disabil Res. 2018 Jun;62(6):467-473. doi: 10.1111/jir.12476. Epub 2018 Feb 20.

PMID:
29460462
11.

Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging.

Corrêa DG, Ventura N, Gasparetto EL.

Childs Nerv Syst. 2017 Aug;33(8):1241-1242. doi: 10.1007/s00381-017-3508-9. Epub 2017 Jul 4. No abstract available.

PMID:
28676976
12.

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.

Fukushi D, Kurosawa K, Suzuki Y, Suzuki K, Yamada K, Watanabe S, Yokochi K, Wakamatsu N.

Am J Med Genet A. 2017 Aug;173(8):2201-2209. doi: 10.1002/ajmg.a.38313. Epub 2017 Jun 9.

PMID:
28599099
13.

Phonological patterns (templates) in 5p deletion syndrome.

Garmann NG, Kristoffersen KE, Simonsen HG.

Clin Linguist Phon. 2018;32(2):101-113. doi: 10.1080/02699206.2017.1316775. Epub 2017 May 12.

PMID:
28498724
14.

Profiles of amino acids and biogenic amines in the plasma of Cri-du-Chat patients.

Furtado DZS, de Moura Leite FBV, Barreto CN, Faria B, Jedlicka LDL, de Jesus Silva E, da Silva HDT, Bechara EJH, Assunção NA.

J Pharm Biomed Anal. 2017 Jun 5;140:137-145. doi: 10.1016/j.jpba.2017.03.034. Epub 2017 Mar 21.

PMID:
28351018
15.

A Newly Recognized Association of Hirschsprung Disease With Cri-du-chat Syndrome.

Ullah I, Mahajan L, Magnuson D.

Am J Gastroenterol. 2017 Jan;112(1):185-186. doi: 10.1038/ajg.2016.484. No abstract available.

PMID:
28050027
16.

Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods.

Guala A, Spunton M, Tognon F, Pedrinazzi M, Medolago L, Cerutti Mainardi P, Spairani S, Malacarne M, Finale E, Comelli M, Danesino C.

ScientificWorldJournal. 2016;2016:3125283. doi: 10.1155/2016/3125283. Epub 2016 Nov 28.

17.

Temporal and spatial gait parameters in children with Cri du Chat Syndrome under single and dual task conditions.

Abbruzzese LD, Salazar R, Aubuchon M, Rao AK.

Gait Posture. 2016 Oct;50:47-52. doi: 10.1016/j.gaitpost.2016.08.006. Epub 2016 Aug 5.

PMID:
27569649
18.

Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly.

Chen CP, Wang LK, Chern SR, Wu PS, Ko K, Chen YN, Chen SW, Lee MS, Wang W.

Taiwan J Obstet Gynecol. 2016 Aug;55(4):591-5. doi: 10.1016/j.tjog.2016.06.014.

19.

Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.

Espirito Santo LD, Moreira LM, Riegel M.

Biomed Res Int. 2016;2016:5467083. doi: 10.1155/2016/5467083. Epub 2016 Apr 7.

20.

Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome.

Lefranc V, de Luca A, Hankard R.

Am J Med Genet A. 2016 May;170A(5):1358-62. doi: 10.1002/ajmg.a.37597. Epub 2016 Feb 12.

PMID:
26872355

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