Literature DB >> 25729737

A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis.

Young Jin Kim1, Tae Sung Park1, Mi Young Han2, Hoi Soo Yoon2, Yong-Sung Choi2.   

Abstract

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Year:  2015        PMID： 25729737      PMCID： PMC4330185          DOI： 10.3343/alm.2015.35.2.272

Source DB:  PubMed          Journal:  Ann Lab Med        ISSN： 2234-3806            Impact factor:   3.464


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  8 in total

1.  Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.

Authors:  J D Cody; P D Ghidoni; B R DuPont; D E Hale; S G Hilsenbeck; R F Stratton; D S Hoffman; S Muller; R L Schaub; R J Leach; C I Kaye
Journal:  Am J Med Genet       Date:  1999-08-27

2.  Neurologic manifestations in 18q- syndrome.

Authors:  G Miller; P N Mowrey; K D Hopper; C A Frankel; R L Ladda
Journal:  Am J Med Genet       Date:  1990-09

3.  RTTN mutations link primary cilia function to organization of the human cerebral cortex.

Authors:  Sima Kheradmand Kia; Elly Verbeek; Erik Engelen; Rachel Schot; Raymond A Poot; Irenaeus F M de Coo; Maarten H Lequin; Cathryn J Poulton; Farzin Pourfarzad; Frank G Grosveld; António Brehm; Marie Claire Y de Wit; Renske Oegema; William B Dobyns; Frans W Verheijen; Grazia M S Mancini
Journal:  Am J Hum Genet       Date:  2012-08-30       Impact factor: 11.025

4.  Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.

Authors:  Ilse Feenstra; Lisenka E L M Vissers; Ronald J E Pennings; Willy Nillessen; Rolph Pfundt; Henricus P Kunst; Ronald J Admiraal; Joris A Veltman; Conny M A van Ravenswaaij-Arts; Han G Brunner; Cor W R J Cremers
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

Review 5.  Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

Authors:  Dorothée C van Trier; Ilse Feenstra; Petra Bot; Nicole de Leeuw; Jos M Th Draaisma
Journal:  Eur J Med Genet       Date:  2013-05-22       Impact factor: 2.708

6.  Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

Authors:  Joris A Veltman; Yvonne Jonkers; Inge Nuijten; Irene Janssen; Walter van der Vliet; Erik Huys; Joris Vermeesch; Griet Van Buggenhout; Jean-Pierre Fryns; Ronald Admiraal; Paulien Terhal; Didier Lacombe; Ad Geurts van Kessel; Dominique Smeets; Eric F P M Schoenmakers; Conny M van Ravenswaaij-Arts
Journal:  Am J Hum Genet       Date:  2003-05-09       Impact factor: 11.025

7.  DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Authors:  Helen V Firth; Shola M Richards; A Paul Bevan; Stephen Clayton; Manuel Corpas; Diana Rajan; Steven Van Vooren; Yves Moreau; Roger M Pettett; Nigel P Carter
Journal:  Am J Hum Genet       Date:  2009-04-02       Impact factor: 11.025

8.  Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.

Authors:  Ilse Feenstra; Lisenka E L M Vissers; Mirjam Orsel; Ad Geurts van Kessel; Han G Brunner; Joris A Veltman; Conny M A van Ravenswaaij-Arts
Journal:  Am J Med Genet A       Date:  2007-08-15       Impact factor: 2.802
  8 in total
  1 in total

1.  Case report of a novel phenotype in 18q deletion syndrome.

Authors:  Roxana Elena Bohîlţea; Monica Mihaela Cîrstoiu; Florina Mihaela Nedelea; Natalia Turcan; Tiberiu Augustin Georgescu; Octavian Munteanu; Alexandru Baroş; Anca Maria Istrate-Ofiţeru; Costin Berceanu
Journal:  Rom J Morphol Embryol       Date:  2020 Jul-Sep       Impact factor: 1.033
  1 in total

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