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Items: 1 to 20 of 98

1.

Phenotypic correlations in a patient with ring chromosome 22.

Demirhan O, Tunç E.

Indian J Hum Genet. 2010 May;16(2):97-9. doi: 10.4103/0971-6866.69372.

2.

Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation.

Bouhjar IB, Gmidène A, Soyah N, Hanene H, Mougou S, Elghezal H, Saad A.

J Pediatr Genet. 2012 Mar;1(1):63-8. doi: 10.3233/PGE-2012-012.

3.

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

Stavber L, Bertok S, Kovač J, Volk M, Lovrečić L, Battelino T, Hovnik T.

Mol Cytogenet. 2017 Mar 23;10:10. doi: 10.1186/s13039-017-0312-x. eCollection 2017.

4.

A case with a ring chromosome 22.

Koç A, Karaer K, Ergün MA, Yirmibeş-Karaoğuz M, Kan D, Cansu A, Perçin F.

Turk J Pediatr. 2008 Mar-Apr;50(2):193-6.

PMID:
18664089
5.

Ring chromosome 18: a case report.

Heydari S, Hassanzadeh F, Hassanzadeh Nazarabadi M.

Int J Mol Cell Med. 2014 Fall;3(4):287-9.

6.

[Ring chromosome 21 as a cause of developmental disorder. A case report from the practice of child psychiatry].

Melkild A.

Tidsskr Nor Laegeforen. 1994 Jan 10;114(1):36-8. Norwegian.

PMID:
7507604
7.

Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.

Bedoyan JK, Flore LA, Alkatib A, Ebrahim SA, Bawle EV.

Am J Med Genet A. 2004 Sep 1;129A(3):316-20.

PMID:
15326636
9.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
10.

Paternal origin of der(X)t(X;6) in a girl with trisomy 6p and unbalanced t(6;10) mosaicism in her mother.

Petković I, Barisić I, Bastić M, Hećimović S, Bago R.

Am J Med Genet A. 2003 Jul 15;120A(2):266-71.

PMID:
12833412
12.

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

Ciocca L, Surace C, Digilio MC, Roberti MC, Sirleto P, Lombardo A, Russo S, Brizi V, Grotta S, Cini C, Angioni A.

BMC Med Genomics. 2013 Feb 11;6:3. doi: 10.1186/1755-8794-6-3.

13.

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.

Guilherme RS, Meloni Vde F, Takeno SS, Pellegrino R, Brunoni D, Kulikowski LD, Melaragno MI.

J Med Case Rep. 2012 Sep 7;6:283.

14.

Ring 20 chromosome syndrome with epilepsy and dysmorphic features: a case report.

García DM, Ortiz R, Gómez A, Barriuso E.

Epilepsia. 2001 Dec;42(12):1607-10.

15.

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature.

Paththinige CS, Sirisena ND, Kariyawasam UG, Saman Kumara LP, Dissanayake VH.

Case Rep Genet. 2016;2016:4645716. doi: 10.1155/2016/4645716. Epub 2016 Aug 16.

16.

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
17.

Inherited ring chromosome 8 without loss of subtelomeric sequences.

Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A.

Ann Genet. 2004 Jul-Sep;47(3):289-96. Review.

PMID:
15337475
18.

Prenatal diagnosis of familial ring 21 chromosome.

Melnyk AR, Ahmed I, Taylor JC.

Prenat Diagn. 1995 Mar;15(3):269-73.

PMID:
7784385
19.

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4.

Chen CP, Chen M, Su YN, Tsai FJ, Chern SR, Wu PC, Chen WL, Chen LF, Pan CW, Wang W.

Taiwan J Obstet Gynecol. 2011 Jun;50(2):188-95. doi: 10.1016/j.tjog.2011.04.002.

20.

Ring chromosome 22 and autism: report and review.

MacLean JE, Teshima IE, Szatmari P, Nowaczyk MJ.

Am J Med Genet. 2000 Feb 28;90(5):382-5.

PMID:
10706359

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