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Results: 1 to 20 of 23

Select item 232666431.

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]

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Select item 230637692.

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]

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Select item 230359713.

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

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Select item 223683004.

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]

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Select item 220859935.

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]

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Select item 216149906.

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]

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Select item 212398727.

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

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Select item 211958118.

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]

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Select item 208337999.

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]

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Select item 2062484110.

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

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Select item 2059953011.

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]

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Select item 2046139012.

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]

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Select item 2045299613.

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]

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Select item 2022724614.

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]

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Select item 1963572615.

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]

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Select item 1958406316.

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]

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Select item 1952070017.

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M.

J Med Genet. 2009 Oct;46(10):703-10. doi: 10.1136/jmg.2008.065094. Epub 2009 Jun 10.

PMID:: 19520700; [PubMed - indexed for MEDLINE]

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Select item 1930295118.

Classical (type I) lissencephaly and Miller-Dieker syndrome.

Matarese CA, Renaud DL.

Pediatr Neurol. 2009 Apr;40(4):324-5. doi: 10.1016/j.pediatrneurol.2008.11.008. No abstract available.

PMID:: 19302951; [PubMed - indexed for MEDLINE]

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Select item 1926208219.

Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization.

Cho EH, Park BY, Cho JH, Kang YS.

Korean J Lab Med. 2009 Feb;29(1):71-6. doi: 10.3343/kjlm.2009.29.1.71.

PMID:: 19262082; [PubMed - indexed for MEDLINE]

Free Article

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Select item 1913695020.

Increased LIS1 expression affects human and mouse brain development.

Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O.

Nat Genet. 2009 Feb;41(2):168-77. doi: 10.1038/ng.302. Epub 2009 Jan 11.

PMID:: 19136950; [PubMed - indexed for MEDLINE]

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2 free full-text articles in PubMed Central

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems. [BMC Med Genet. 2012]
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. Epub 2012 Oct 4.
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. [Korean J Lab Med. 2011]
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.

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