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Items: 1 to 20 of 110

1.

Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32).

Mademont-Soler I, Morales C, Armengol L, Soler A, Sánchez A.

Am J Med Genet A. 2010 Sep;152A(9):2308-12. doi: 10.1002/ajmg.a.33550.

PMID:
20683983
2.

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D.

J Med Genet. 2007 Jan;44(1):e60.

3.

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter.

Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M.

Am J Med Genet A. 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814.

PMID:
19363806
4.

Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations.

Alanay Y, Aktaş D, Utine E, Talim B, Onderoğlu L, Cağlar M, Tunçbilek E.

Am J Med Genet A. 2005 Jul 30;136(3):265-8. Review.

PMID:
15948192
5.

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.

Mimaki M, Shiihara T, Watanabe M, Hirakata K, Sakazume S, Ishiguro A, Shimojima K, Yamamoto T, Oka A, Mizuguchi M.

Brain Dev. 2015 Aug;37(7):714-8. doi: 10.1016/j.braindev.2014.10.009. Epub 2014 Nov 8.

PMID:
25454392
6.

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA.

Am J Med Genet. 2002 Nov 1;112(4):384-9. Corrected and republished in: Am J Med Genet A. 2003 Apr 15;118A(2):384-9.

PMID:
12376941
7.

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.

McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA.

Am J Med Genet A. 2003 Apr 15;118A(2):384-9.

PMID:
12698964
8.

Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.

Tohyama J, Kato M, Kawasaki S, Harada N, Kawara H, Matsui T, Akasaka N, Ohashi T, Kobayashi Y, Matsumoto N.

Am J Med Genet A. 2011 Jan;155A(1):130-3. doi: 10.1002/ajmg.a.33652. Epub 2010 Dec 10.

PMID:
21204220
9.

Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.

Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ.

Nat Genet. 2004 Oct;36(10):1053-5. Epub 2004 Aug 29.

PMID:
15338008
10.

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L.

Eur J Med Genet. 2009 Jan-Feb;52(1):41-6. doi: 10.1016/j.ejmg.2008.10.002. Epub 2008 Oct 31.

PMID:
19022413
11.

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly.

Chen CP, Chen M, Su YN, Tsai FJ, Chern SR, Hsu CY, Wu PC, Town DD, Lee DJ, Ma GC, Wang W.

Taiwan J Obstet Gynecol. 2010 Sep;49(3):320-6. doi: 10.1016/S1028-4559(10)60068-X.

12.

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

Tzschach A, Menzel C, Erdogan F, Schubert M, Hoeltzenbein M, Barbi G, Petzenhauser C, Ropers HH, Ullmann R, Kalscheuer V.

Am J Med Genet A. 2007 Feb 15;143(4):333-7.

PMID:
17230488
13.

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

Tyson C, McGillivray B, Chijiwa C, Rajcan-Separovic E.

Am J Med Genet A. 2004 Sep 1;129A(3):254-60.

PMID:
15326624
14.
15.

Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.

van Steensel MA, Vreeburg M, Engelen J, Ghesquiere S, Stegmann AP, Herbergs J, van Lent J, Smeets B, Vles JH.

Am J Med Genet A. 2008 Nov 15;146A(22):2944-9. doi: 10.1002/ajmg.a.32473.

PMID:
18925676
16.

Duplication of the ZIC2 gene is not associated with holoprosencephaly.

Jobanputra V, Burke A, Kwame AY, Shanmugham A, Shirazi M, Brown S, Warburton PE, Levy B, Warburton D.

Am J Med Genet A. 2012 Jan;158A(1):103-8. doi: 10.1002/ajmg.a.34375. Epub 2011 Nov 21.

17.

22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.

Alp MY, Çebi AH, Seyhan S, Cansu A, Aydin H, Ikbal M.

Genet Couns. 2016;27(1):43-9.

PMID:
27192891
18.

Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities.

Morales C, Mademont-Soler I, Armengol L, Milà M, Badenas C, Andrés S, Soler A, Sánchez A.

Cytogenet Genome Res. 2009;125(4):334-40. doi: 10.1159/000235940. Epub 2009 Oct 27.

PMID:
19864897
19.

Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

Hayashi S, Kurosawa K, Imoto I, Mizutani S, Inazawa J.

Am J Med Genet A. 2005 Nov 15;139(1):32-6.

PMID:
16222686
20.

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group, Bertini E, Dallapiccola B, Valente EM.

Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75.

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