Literature DB >> 10756340

First confirmed case with paternal uniparental disomy of chromosome 16.

J Kohlhase1, B Janssen, K Weidenauer, K Harms, I Bartels.   

Abstract

The existence of paternal uniparental disomy of chromosome 16 [upd(16)pat] has previously been suspected but has not been proven. We report prenatal detection and follow-up of isodisomic upd(16)pat in a child with minimal defects but otherwise normal development. Our results indicate that isodisomic upd(16)pat is associated with a normal outcome if no recessive mutation is reduced to homozygosity. Copyright 2000 Wiley-Liss, Inc.

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Mesh：

Year:  2000        PMID： 10756340     DOI： 10.1002/(sici)1096-8628(20000320)91:3<190::aid-ajmg6>3.0.co;2-i

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

Authors:  Siddharth Prakash; Scott A LeMaire; Molly Bray; Dianna M Milewicz; John W Belmont
Journal:  Am J Med Genet A       Date:  2010-09       Impact factor: 2.802

2.  A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.

Authors:  Partha Sen; Romana Gerychova; Petr Janku; Marta Jezova; Iveta Valaskova; Colby Navarro; Iris Silva; Claire Langston; Stephen Welty; John Belmont; Pawel Stankiewicz
Journal:  Eur J Hum Genet       Date:  2012-09-19       Impact factor: 4.246

3.  Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.

Authors:  Przemyslaw Szafranski; Avinash V Dharmadhikari; Erwin Brosens; Priyatansh Gurha; Katarzyna E Kolodziejska; Ou Zhishuo; Piotr Dittwald; Tadeusz Majewski; K Naga Mohan; Bo Chen; Richard E Person; Dick Tibboel; Annelies de Klein; Jason Pinner; Maya Chopra; Girvan Malcolm; Gregory Peters; Susan Arbuckle; Sixto F Guiang; Virginia A Hustead; Jose Jessurun; Russel Hirsch; David P Witte; Isabelle Maystadt; Neil Sebire; Richard Fisher; Claire Langston; Partha Sen; Paweł Stankiewicz
Journal:  Genome Res       Date:  2012-10-03       Impact factor: 9.043

4.  Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Authors:  Aaron Hamvas; Lawrence M Nogee; Daniel J Wegner; Kelcey Depass; John Christodoulou; Bruce Bennetts; Leon R McQuade; Peter H Gray; Robin R Deterding; Travis R Carroll; Anja Kammesheidt; Laura M Kasch; Shashikant Kulkarni; F Sessions Cole
Journal:  J Pediatr       Date:  2009-08-03       Impact factor: 4.406

5.  Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion.

Authors:  Yuko Kondo; Sami Tsukishiro; Mitsuyo Tanemura; Mayumi Sugiura-Ogasawara; Kaoru Suzumori; Shin-Ichi Sonta
Journal:  J Hum Genet       Date:  2004-03-02       Impact factor: 3.172

6.  Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:  Przemyslaw Szafranski; Tomasz Gambin; Avinash V Dharmadhikari; Kadir Caner Akdemir; Shalini N Jhangiani; Jennifer Schuette; Nihal Godiwala; Svetlana A Yatsenko; Jessica Sebastian; Suneeta Madan-Khetarpal; Urvashi Surti; Rosanna G Abellar; David A Bateman; Ashley L Wilson; Melinda H Markham; Jill Slamon; Fernando Santos-Simarro; María Palomares; Julián Nevado; Pablo Lapunzina; Brian Hon-Yin Chung; Wai-Lap Wong; Yoyo Wing Yiu Chu; Gary Tsz Kin Mok; Eitan Kerem; Joel Reiter; Namasivayam Ambalavanan; Scott A Anderson; David R Kelly; Joseph Shieh; Taryn C Rosenthal; Kristin Scheible; Laurie Steiner; M Anwar Iqbal; Margaret L McKinnon; Sara Jane Hamilton; Kamilla Schlade-Bartusiak; Dawn English; Glenda Hendson; Elizabeth R Roeder; Thomas S DeNapoli; Rebecca Okashah Littlejohn; Daynna J Wolff; Carol L Wagner; Alison Yeung; David Francis; Elizabeth K Fiorino; Morris Edelman; Joyce Fox; Denise A Hayes; Sandra Janssens; Elfride De Baere; Björn Menten; Anne Loccufier; Lieve Vanwalleghem; Philippe Moerman; Yves Sznajer; Amy S Lay; Jennifer L Kussmann; Jasneek Chawla; Diane J Payton; Gael E Phillips; Erwin Brosens; Dick Tibboel; Annelies de Klein; Isabelle Maystadt; Richard Fisher; Neil Sebire; Alison Male; Maya Chopra; Jason Pinner; Girvan Malcolm; Gregory Peters; Susan Arbuckle; Melissa Lees; Zoe Mead; Oliver Quarrell; Richard Sayers; Martina Owens; Charles Shaw-Smith; Janet Lioy; Eileen McKay; Nicole de Leeuw; Ilse Feenstra; Liesbeth Spruijt; Frances Elmslie; Timothy Thiruchelvam; Carlos A Bacino; Claire Langston; James R Lupski; Partha Sen; Edwina Popek; Paweł Stankiewicz
Journal:  Hum Genet       Date:  2016-04-12       Impact factor: 4.132

7.  Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

Authors:  Avinash V Dharmadhikari; Przemyslaw Szafranski; Vladimir V Kalinichenko; Pawel Stankiewicz
Journal:  Curr Genomics       Date:  2015-04       Impact factor: 2.236

8.  Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Authors:  Paweł Stankiewicz; Partha Sen; Samarth S Bhatt; Mekayla Storer; Zhilian Xia; Bassem A Bejjani; Zhishuo Ou; Joanna Wiszniewska; Daniel J Driscoll; Melissa K Maisenbacher; Juan Bolivar; Mislen Bauer; Elaine H Zackai; Donna McDonald-McGinn; Małgorzata M J Nowaczyk; Mitzi Murray; Virginia Hustead; Kristin Mascotti; Regina Schultz; Lavinia Hallam; Duncan McRae; Andrew G Nicholson; Robert Newbury; Jane Durham-O'Donnell; Gail Knight; Usha Kini; Tamim H Shaikh; Vicki Martin; Matthew Tyreman; Ingrid Simonic; Lionel Willatt; Joan Paterson; Sarju Mehta; Diana Rajan; Tomas Fitzgerald; Susan Gribble; Elena Prigmore; Ankita Patel; Lisa G Shaffer; Nigel P Carter; Sau Wai Cheung; Claire Langston; Charles Shaw-Smith
Journal:  Am J Hum Genet       Date:  2009-06-04       Impact factor: 11.025

9.  Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.

Authors:  Anne S Soehn; Tim W Rattay; Stefanie Beck-Wödl; Karin Schäferhoff; David Monk; Marion Döbler-Neumann; Konstanze Hörtnagel; Agatha Schlüter; Montserrat Ruiz; Aurora Pujol; Stephan Züchner; Olaf Riess; Rebecca Schüle; Peter Bauer; Ludger Schöls
Journal:  Neurology       Date:  2016-06-17       Impact factor: 9.910
  9 in total

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