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Items: 1 to 20 of 39

1.

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.

Morgan AT, Haaften LV, van Hulst K, Edley C, Mei C, Tan TY, Amor D, Fisher SE, Koolen DA.

Eur J Hum Genet. 2018 Jan;26(1):75-84. doi: 10.1038/s41431-017-0035-9. Epub 2017 Dec 11.

2.

Early fetal presentation of Koolen-de Vries: Case report with literature review.

Sauvestre F, Marguet F, Rooryck C, Vuillaume ML, Cardinaud F, Laquerrière A, André G, Pelluard F.

Eur J Med Genet. 2017 Nov;60(11):605-609. doi: 10.1016/j.ejmg.2017.08.012. Epub 2017 Aug 12. Review.

PMID:
28811189
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.

10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence.

Keen C, Samango-Sprouse C, Dubbs H, Zackai EH.

Am J Med Genet A. 2017 Mar;173(3):762-765. doi: 10.1002/ajmg.a.38080.

PMID:
28211987
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.

Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing.

Altarescu G, Beeri R, Lazer-Derbeko G, Eldar-Geva T, Steinberg A, Levy-Lahad E, Renbaum P.

Reprod Biomed Online. 2015 Nov;31(5):706-10. doi: 10.1016/j.rbmo.2015.07.002. Epub 2015 Jul 17.

PMID:
26380867
9.

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.

10.

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.

11.

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
12.

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
13.

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
14.

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P.

Eur J Med Genet. 2014 Oct;57(10):552-7. doi: 10.1016/j.ejmg.2014.07.003. Epub 2014 Aug 6.

PMID:
25106685
15.

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A.

J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8.

16.

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
17.

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
18.

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
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.

De novo 15q13.3 microdeletion with cryptogenic West syndrome.

Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M.

Am J Med Genet A. 2013 Oct;161A(10):2582-7. doi: 10.1002/ajmg.a.36085. Epub 2013 Aug 8.

PMID:
23929658

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