Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 50

1.

[Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].

Jiang YL, Qi QW, Zhou XY, Geng FF, Bai JJ, Hao N, Liu JT.

Zhonghua Fu Chan Ke Za Zhi. 2017 Oct 25;52(10):662-668. doi: 10.3760/cma.j.issn.0529-567X.2017.10.004. Chinese.

PMID:
29060963
2.

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.

Arbogast T, Iacono G, Chevalier C, Afinowi NO, Houbaert X, van Eede MC, Laliberte C, Birling MC, Linda K, Meziane H, Selloum M, Sorg T, Nadif Kasri N, Koolen DA, Stunnenberg HG, Henkelman RM, Kopanitsa M, Humeau Y, De Vries BBA, Herault Y.

PLoS Genet. 2017 Jul 13;13(7):e1006886. doi: 10.1371/journal.pgen.1006886. eCollection 2017 Jul.

3.

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

León LE, Benavides F, Espinoza K, Vial C, Alvarez P, Palomares M, Lay-Son G, Miranda M, Repetto GM.

Sci Rep. 2017 May 11;7(1):1795. doi: 10.1038/s41598-017-01896-w.

4.

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.

Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE.

Epilepsia. 2017 Jun;58(6):1085-1094. doi: 10.1111/epi.13746. Epub 2017 Apr 25.

5.

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.

Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS.

J Appl Genet. 2017 Feb;58(1):93-98. doi: 10.1007/s13353-016-0366-1. Epub 2016 Sep 14.

6.

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

Bernardo P, Madia F, Santulli L, Del Gaudio L, Caccavale C, Zara F, Traverso M, Cirillo M, Striano S, Coppola A.

Brain Dev. 2016 Aug;38(7):663-8. doi: 10.1016/j.braindev.2016.02.002. Epub 2016 Feb 17.

PMID:
26897099
7.

TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME.

Uctepe E, Aktas D, Alikasifoglu M, Gunduz E, Sonmez FM.

Genet Couns. 2016;27(3):357-365.

PMID:
30204964
8.
9.

Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases.

Yap P, McGillivray G, Norris F, Said JM, Kornman L, Stark Z.

Prenat Diagn. 2015 Dec;35(12):1265-7. doi: 10.1002/pd.4690. Epub 2015 Oct 14. No abstract available.

PMID:
26348998
10.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, Mattina T, Prescott K, Zhang HZ, Saal HM, Hehir-Kwa JY, Willemsen MH, Ockeloen CW, Jongmans MC, Van der Aa N, Failla P, Barone C, Avola E, Brooks AS, Kant SG, Gerkes EH, Firth HV, Õunap K, Bird LM, Masser-Frye D, Friedman JR, Sokunbi MA, Dixit A, Splitt M; DDD Study, Kukolich MK, McGaughran J, Coe BP, Flórez J, Nadif Kasri N, Brunner HG, Thompson EM, Gecz J, Romano C, Eichler EE, de Vries BB.

Eur J Hum Genet. 2016 May;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26.

11.

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA.

BMC Med Genet. 2015 Aug 22;16:68. doi: 10.1186/s12881-015-0211-0.

12.

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

Barone C, Novelli A, Capalbo A, Del Grano AC, Giuffrida MG, Indaco L, Bianca S.

Am J Med Genet A. 2015 Jul;167(7):1671-3. doi: 10.1002/ajmg.a.37054. Epub 2015 Apr 9. No abstract available.

PMID:
25858762
13.

Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome.

Maley AM, Spraker MK, de Vries BB, Koolen DA.

Clin Dysmorphol. 2015 Apr;24(2):86-7. doi: 10.1097/MCD.0000000000000073. No abstract available.

PMID:
25719359
14.

17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.

Egloff M, Encha-Razavi F, Garel C, Bonnière-Darcy M, Millischer AE, Lapierre JM, Fontaine S, de Blois MC, Vekemans M, Turleau C, Ville Y, Malan V.

Cytogenet Genome Res. 2014;144(3):178-82. doi: 10.1159/000369117. Epub 2014 Nov 15.

PMID:
25402493
15.

Monozygotic twins with 17q21.31 microdeletion syndrome.

Vlckova M, Hancarova M, Drabova J, Slamova Z, Koudova M, Alanova R, Mannik K, Kurg A, Sedlacek Z.

Twin Res Hum Genet. 2014 Oct;17(5):405-10. doi: 10.1017/thg.2014.29. Epub 2014 Jun 9.

PMID:
24909117
16.

Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.

Zarate YA, Bell C, Schaefer GB.

Cleft Palate Craniofac J. 2015 Mar;52(2):237-9. doi: 10.1597/13-221. Epub 2014 May 7.

PMID:
24805776
17.

If not Angelman, what is it? A review of Angelman-like syndromes.

Tan WH, Bird LM, Thibert RL, Williams CA.

Am J Med Genet A. 2014 Apr;164A(4):975-92. Review.

PMID:
24779060
18.

A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features.

Mc Cormack A, Taylor J, Te Weehi L, Love DR, George AM.

Case Rep Genet. 2014;2014:658570. doi: 10.1155/2014/658570. Epub 2014 Feb 4.

19.

Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings.

Digilio MC, Bernardini L, Capolino R, Digilio M, Dentici ML, Novelli A, Dallapiccola B.

Clin Dysmorphol. 2014 Jan;23(1):32-4. doi: 10.1097/MCD.0000000000000019. No abstract available.

PMID:
24300293
20.

Complex phenotype associated with 17q21.31 microdeletion.

Dornelles-Wawruk H, Pic-Taylor A, Rosenberg C, Krepischi AC, Safatle HP, Ferrari I, Mazzeu JF.

Mol Syndromol. 2013 Sep;4(6):297-301. doi: 10.1159/000354120. Epub 2013 Aug 21.

Supplemental Content

Loading ...
Support Center