Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 21

1.

The Reelin receptors ApoER2 and VLDLR are direct target genes of HIC1 (Hypermethylated In Cancer 1).

Dubuissez M, Faiderbe P, Pinte S, Dehennaut V, Rood BR, Leprince D.

Biochem Biophys Res Commun. 2013 Oct 25;440(3):424-30. doi: 10.1016/j.bbrc.2013.09.091. Epub 2013 Sep 25.

PMID:
24076391
[PubMed - indexed for MEDLINE]
2.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB.

Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27.

PMID:
23813913
[PubMed - indexed for MEDLINE]
3.

Prenatal dolichocephaly: sign of trouble? -A variant of Miller-Dieker syndrome.

Kochuvareed Mampilly T, Tomy Mampilly G, Chandramohan N, Velayutham M, Sheth J, Sheth F, Janaki V.

Fetal Pediatr Pathol. 2013 Jul;32(4):308-11. doi: 10.3109/15513815.2012.754529. Epub 2013 Jan 10.

PMID:
23301919
[PubMed - indexed for MEDLINE]
4.

14-3-3ε gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosum.

Chang B, Gorbea C, Lezin G, Li L, Shan L, Sakai N, Kogaki S, Otomo T, Okinaga T, Hamaoka A, Yu X, Hata Y, Nishida N, Yost HJ, Bowles NE, Brunelli L, Ichida F.

Gene. 2013 Feb 15;515(1):173-80. doi: 10.1016/j.gene.2012.12.049. Epub 2012 Dec 20.

PMID:
23266643
[PubMed - indexed for MEDLINE]
5.

A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?

Ho AC, Liu AP, Lun KS, Tang WF, Chan KY, Lau EY, Tang MH, Tan TY, Chung BH.

Eur J Med Genet. 2012 Dec;55(12):758-62. doi: 10.1016/j.ejmg.2012.09.011. Epub 2012 Oct 9.

PMID:
23063769
[PubMed - indexed for MEDLINE]
6.

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.

Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G.

BMC Med Genet. 2012 Oct 4;13:93. doi: 10.1186/1471-2350-13-93.

PMID:
23035971
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

14-3-3s are potential biomarkers for HIV-related neurodegeneration.

Morales D, Skoulakis EC, Acevedo SF.

J Neurovirol. 2012 Oct;18(5):341-53. doi: 10.1007/s13365-012-0121-2. Epub 2012 Jul 19. Review.

PMID:
22811265
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T.

J Med Genet. 2012 Mar;49(3):179-83. doi: 10.1136/jmedgenet-2011-100542.

PMID:
22368300
[PubMed - indexed for MEDLINE]
9.

Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment.

Østergaard JR, Graakjær J, Brandt C, Birkebæk NH.

Eur J Med Genet. 2012 Jan;55(1):22-6. doi: 10.1016/j.ejmg.2011.09.004. Epub 2011 Oct 24.

PMID:
22085993
[PubMed - indexed for MEDLINE]
10.

De novo supernumerary marker chromosome originating from chromosome 17 resulting in a normal pregnancy outcome.

Yakut S, Cetin Z, Berker-Karauzum S, Mihci E, Mendilcioglu I, Luleci G.

Genet Couns. 2011;22(1):63-8.

PMID:
21614990
[PubMed - indexed for MEDLINE]
11.

Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.

Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH.

Korean J Lab Med. 2011 Jan;31(1):49-53. doi: 10.3343/kjlm.2011.31.1.49.

PMID:
21239872
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.

Hyon C, Marlin S, Chantot-Bastaraud S, Mabboux P, Beaujard MP, Al Ageeli E, Vazquez MP, Picard A, Siffroi JP, Portnoï MF.

Eur J Med Genet. 2011 May-Jun;54(3):287-91. doi: 10.1016/j.ejmg.2010.12.006. Epub 2010 Dec 31.

PMID:
21195811
[PubMed - indexed for MEDLINE]
13.

Deletion of 14-3-3{varepsilon} and CRK: a clinical syndrome with macrocephaly, developmental delay, and generalized epilepsy.

Tenney JR, Hopkin RJ, Schapiro MB.

J Child Neurol. 2011 Feb;26(2):223-7. doi: 10.1177/0883073810379638. Epub 2010 Sep 10.

PMID:
20833799
[PubMed - indexed for MEDLINE]
14.

Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression.

Saito T, Hanai S, Takashima S, Nakagawa E, Okazaki S, Inoue T, Miyata R, Hoshino K, Akashi T, Sasaki M, Goto Y, Hayashi M, Itoh M.

Cereb Cortex. 2011 Mar;21(3):588-96. doi: 10.1093/cercor/bhq125. Epub 2010 Jul 12.

PMID:
20624841
[PubMed - indexed for MEDLINE]
Free Article
15.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S.

Eur J Med Genet. 2010 Sep-Oct;53(5):303-8. doi: 10.1016/j.ejmg.2010.06.009. Epub 2010 Jul 3.

PMID:
20599530
[PubMed - indexed for MEDLINE]
16.

Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.

Marcorelles P, Laquerrière A, Adde-Michel C, Marret S, Saugier-Veber P, Beldjord C, Friocourt G.

Acta Neuropathol. 2010 Oct;120(4):503-15. doi: 10.1007/s00401-010-0692-z. Epub 2010 May 12.

PMID:
20461390
[PubMed - indexed for MEDLINE]
17.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.

J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906.

PMID:
20452996
[PubMed - indexed for MEDLINE]
18.

Genomic copy number variations at 17p13.3 and epileptogenesis.

Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T.

Epilepsy Res. 2010 May;89(2-3):303-9. doi: 10.1016/j.eplepsyres.2010.02.002. Epub 2010 Mar 12.

PMID:
20227246
[PubMed - indexed for MEDLINE]
19.

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.

Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L.

J Med Genet. 2010 Feb;47(2):132-6. doi: 10.1136/jmg.2009.069112. Epub 2009 Jul 26.

PMID:
19635726
[PubMed - indexed for MEDLINE]
20.

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P.

J Med Genet. 2009 Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637. Epub 2009 Jul 6.

PMID:
19584063
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk