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Results: 1 to 20 of 113

Related Citations for PubMed (Select 21326286)

1.

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.

Kariminejad A, Kariminejad R, Moshtagh A, Zanganeh M, Kariminejad MH, Neuenschwander S, Okoniewski M, Wey E, Schinzel A, Baumer A.

Eur J Hum Genet. 2011 May;19(5):555-60. doi: 10.1038/ejhg.2010.252. Epub 2011 Feb 16.

2.

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.

Vermeulen SJ, Speleman F, Vanransbeeck L, Verspeet J, Menten B, Verschraegen-Spae MR, Wilde PD, Messiaen L, Michaelis RC, Leroy JG.

Eur J Hum Genet. 2005 Jan;13(1):52-8.

3.

Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q).

Prontera P, Buldrini B, Aiello V, Rogaia D, Mencarelli A, Gruppioni R, Bonfatti A, Beltrami N, Donti E, Sensi A.

Genet Couns. 2010;21(1):91-7.

PMID:
20420035
4.

Maternal uniparental disomy in a patient with Prader-Willi syndrome with an additional small inv dup(15) chromosome.

Wang YM, Chuang L, Wang BT, Kuo PL.

J Formos Med Assoc. 2004 Dec;103(12):943-7.

PMID:
15624046
5.

Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.

Delicado A, Lapunzina P, Palomares M, Molina MA, Galán E, López Pajares I.

Eur J Med Genet. 2005 Apr-Jun;48(2):159-66. Epub 2005 Mar 2.

PMID:
16053907
6.

Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3).

Asano T, Ikeuchi T, Shinohara T, Enokido H, Hashimoto K.

Jinrui Idengaku Zasshi. 1991 Sep;36(3):257-65. Review.

PMID:
1753439
7.

Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome.

Oracova E, Musilova P, Kopecna O, Rybar R, Vozdova M, Vesela K, Rubes J.

J Androl. 2009 May-Jun;30(3):233-9. doi: 10.2164/jandrol.108.006783. Epub 2008 Dec 4.

8.

Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.

Israëls T, Hoovers J, Turpijn HM, Wijburg FA, Hennekam RC.

Clin Genet. 1996 Dec;50(6):520-4. Review.

PMID:
9147887
9.

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

Greger V, Knoll JH, Wagstaff J, Woolf E, Lieske P, Glatt H, Benn PA, Rosengren SS, Lalande M.

Am J Hum Genet. 1997 Mar;60(3):574-80.

10.

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA.

J Med Genet. 1993 Sep;30(9):756-60.

11.

Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18.

Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR.

Ann Genet. 2004 Jul-Sep;47(3):297-303.

PMID:
15337476
12.

Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.

Stankiewicz P, Brozek I, Hélias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, Balcerska A, Wozniak A, Kardaś I, Wirth J, Mazurczak T, Limon J.

Am J Med Genet. 2001 Jul 1;101(3):226-39.

PMID:
11424138
13.

Two complementary recombinant chromosomes 5 in a healthy woman.

Bartsch O, Ergun MA, Balci S, Kan D, Eggermann T, Kotzot D.

Cytogenet Genome Res. 2006;114(2):178-82.

PMID:
16825772
14.

Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization.

Chen CP, Su YN, Chern SR, Hsu CY, Tsai FJ, Wu PC, Lee CC, Chen YT, Lee MS, Wang W.

Taiwan J Obstet Gynecol. 2011 Mar;50(1):67-73. doi: 10.1016/j.tjog.2011.01.038.

PMID:
21482378
15.

Recombinant chromosome 14 due to maternal pericentric inversion.

Sliuzas V, Utkus A, Kucinskas V.

J Appl Genet. 2008;49(2):205-7. doi: 10.1007/BF03195614.

PMID:
18436995
16.

Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases.

Cotter PD, Babu A, McCurdy LD, Caggana M, Willner JP, Desnick RJ.

Ann Genet. 1997;40(4):222-6.

PMID:
9526617
17.
18.

First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16.

Starke H, Mitulla B, Nietzel A, Heller A, Beensen V, Grosswendt G, Claussen U, von Eggeling F, Liehr T.

Am J Med Genet A. 2003 Jan 1;116A(1):26-30.

PMID:
12476447
19.

Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features.

Stembalska A, Laczmanska I, Schlade-Bartusiak K, Czemarmazowicz H, Murawski M, Sasiadek M.

Eur J Pediatr. 2007 Jan;166(1):67-71. Epub 2006 Sep 30.

PMID:
17013597
20.

A fetus with recombinant of chromosome 8 inherited from her carrier father.

Fujimoto A, Towner JW, Turkel SB, Wilson MG.

Hum Genet. 1978 Feb 16;40(3):241-8.

PMID:
631845
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