Literature DB >> 12011164

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints.

A Kocks, S Endele, R Heller, B Schröder, H-J Schäfer, C Städtler, M Makrigeorgi-Butera, A Winterpacht.   

Abstract

Mesh：

Year:  2002        PMID： 12011164      PMCID： PMC1735105          DOI： 10.1136/jmg.39.5.e23

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  7 in total

Review 1.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

Review 2.  Review of genetic factors in intestinal malrotation.

Authors:  Vicki Martin; Charles Shaw-Smith
Journal:  Pediatr Surg Int       Date:  2010-06-13       Impact factor: 1.827

3.  Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.

Authors:  Dongsook Lee; Sohyun Na; Surim Park; Sanghee Go; Jinyoung Ma; Soonha Yang; Kichul Kim; Seunggwan Lee; Doyeong Hwang
Journal:  Mol Cytogenet       Date:  2019-02-26       Impact factor: 2.009

4.  Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.

Authors:  Halit Akbas; Naci Cine; Mahmut Erdemoglu; Ahmet Engin Atay; Selda Simsek; Aysegul Turkyilmaz; Mehmet Fidanboy
Journal:  Case Rep Obstet Gynecol       Date:  2013-12-19

5.  Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3).

Authors:  Norma Elena de León Ojeda; Michel Soriano-Torres; Mercedes J Cabrera; Dunia Bárbara Benítez Ramos
Journal:  Case Rep Genet       Date:  2012-12-25

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

Authors:  C S Paththinige; N D Sirisena; U G I U Kariyawasam; L P C Saman Kumara; V H W Dissanayake
Journal:  Case Rep Genet       Date:  2016-08-16

7.  Clinical, cytogenetic, and molecular findings in a patient with ring chromosome 4: case report and literature review.

Authors:  César Paz-Y-Miño; Ana Proaño; Stella D Verdezoto; Juan Luis García; Jesús María Hernández-Rivas; Paola E Leone
Journal:  BMC Med Genomics       Date:  2019-11-21       Impact factor: 3.063
  7 in total

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