Literature DB >> 32296163

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).

Daniela Del Gaudio1, Marwan Shinawi2, Caroline Astbury3, Marwan K Tayeh4, Kristen L Deak5, Gordana Raca6.   

Abstract

Entities:  

Keywords:  genomic imprinting; postnatal testing; prenatal testing; uniparental disomy

Mesh：

Year:  2020        PMID： 32296163     DOI： 10.1038/s41436-020-0782-9

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  26 in total

1.  [Drug information for nurses. Obesity; therapeutic main group: anorectics, appetite depressants. 3. Complications of obesity].

Authors:  I B Lumholtz
Journal:  Sygeplejersken       Date:  1976-10-13

Review 2.  Cellular inflammation in asthma: neutral proteases of mast cells.

Authors:  L B Schwartz
Journal:  Am Rev Respir Dis       Date:  1992-02

3.  Synthesis of phenylpropane derivatives during pollen development.

Authors:  R Wiermann
Journal:  Hoppe Seylers Z Physiol Chem       Date:  1972-02

4.  [Dynamics of reactive morphological changes in the undamaged wall of the large intestine in experimental application of MK-2 adhesive].

Authors:  V I Egorov; E S Boguslavskaia
Journal:  Eksp Khir Anesteziol       Date:  1970 Jan-Feb

5.  [Theory of the relationship of the types of feeding and digestion in blood-sucking arthropods and their ability to be specific vectors of the causative agents of transmissible infections].

Authors:  A N Alekseev
Journal:  Parazitologiia       Date:  1985 Jan-Feb

6.  Virological, serological and molecular analysis of a case with congenital cytomegalovirus infection.

Authors:  Y Eizuru; H Takahashi; I Ueno; Y Minamishima
Journal:  Acta Paediatr Jpn       Date:  1988-12

7.  Alcoholism in the elderly.

Authors:  H Berger
Journal:  Postgrad Med       Date:  1983-01       Impact factor: 3.840

8.  [Isolation of antiserum against rat transcortin and characteristics of specific antibodies].

Authors:  K I Krauialis; A P Diashrius
Journal:  Ukr Biokhim Zh (1978)       Date:  1987 May-Jun

9.  Binding of proteins of HeLa S3 cell extract to oligonucleotides containing the consensus interferon-response sequence (IRS) and to the IRS-containing fragment of the human c-myc gene.

Authors:  K T Turpaev; A V Itkes; N M Alexandrova; O V Pokrovskaya; L R Imamova; B K Chernov; L L Kisselev
Journal:  Eur J Biochem       Date:  1991-08-15

10.  Neurotransmitters and stimulation of fluid reabsorption in migratory locust rectal cells.

Authors:  B Fournier; O Viratelle; N Hamoudi; J Proux
Journal:  Gen Comp Endocrinol       Date:  1992-07       Impact factor: 2.822
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  23 in total

Review 1.  Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.

Authors:  Lore Lannoo; Khaila van Straaten; Jeroen Breckpot; Nathalie Brison; Luc De Catte; Eftychia Dimitriadou; Eric Legius; Hilde Peeters; Ilse Parijs; Olga Tsuiko; Leen Vancoillie; Joris Robert Vermeesch; Griet Van Buggenhout; Kris Van Den Bogaert; Kristel Van Calsteren; Koenraad Devriendt
Journal:  Eur J Hum Genet       Date:  2022-07-27       Impact factor: 5.351

2.  First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.

Authors:  Yao Wang; Dong Yu; Wei Wei; Hao Zheng; Ming-Hua Liu; Long Ma; Li-Na Qin; Neng-Zhuang Wang; Jia-Xi Li; Jin-Jiang Wang; Xin-Ling Bi; Hong-Li Yan
Journal:  BMC Med Genomics       Date:  2022-06-18       Impact factor: 3.622

3.  Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies.

Authors:  Ching-Hua Hsiao; Jia-Shing Chen; Yu-Ming Shiao; Yann-Jang Chen; Ching-Hsuan Chen; Woei-Chyn Chu; Yi-Cheng Wu
Journal:  J Clin Med       Date:  2022-06-23       Impact factor: 4.964

4.  Focused Revision: ACMG practice resource: Genetic evaluation of short stature.

Authors:  Cassie S Mintz; Laurie H Seaver; Mira Irons; Adda Grimberg; Reymundo Lozano
Journal:  Genet Med       Date:  2021-01-29       Impact factor: 8.822

5.  Uniparental disomy in a population of 32,067 clinical exome trios.

Authors:  Julie Scuffins; Jennifer Keller-Ramey; Lindsay Dyer; Ganka Douglas; Rebecca Torene; Vladimir Gainullin; Jane Juusola; Jeanne Meck; Kyle Retterer
Journal:  Genet Med       Date:  2021-01-25       Impact factor: 8.822

6.  Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.

Authors:  Mireia Boluda-Navarro; Mariam Ibáñez; Alessandro Liquori; Clara Franco-Jarava; Mónica Martínez-Gallo; Héctor Rodríguez-Vega; Jaijo Teresa; Carmen Carreras; Esperanza Such; Ángel Zúñiga; Roger Colobran; José Vicente Cervera
Journal:  Front Immunol       Date:  2021-03-31       Impact factor: 7.561

Review 7.  Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics.

Authors:  Thomas Eggermann
Journal:  Genes (Basel)       Date:  2020-12-03       Impact factor: 4.096

8.  Confined placental mosaicism of trisomy 6 detected through genome-wide NIPT was associated with placental abruption.

Authors:  Miyuki Nishiyama; Seiji Wada; Fuyuki Hasegawa; Yohji Uehara; Mamoru Ozaki; Kenichiro Hata; Yushi Ito; Haruhiko Sago
Journal:  Clin Case Rep       Date:  2021-12-05

9.  Clinical significance and mechanisms associated with segmental UPD.

Authors:  Peter R Papenhausen; Carla A Kelly; Samuel Harris; Samantha Caldwell; Stuart Schwartz; Andrea Penton
Journal:  Mol Cytogenet       Date:  2021-07-20       Impact factor: 2.009

10.  Low-pass genome sequencing-based detection of absence of heterozygosity: validation in clinical cytogenetics.

Authors:  Zirui Dong; Matthew Hoi Kin Chau; Yanyan Zhang; Zhenjun Yang; Mengmeng Shi; Yi Man Wah; Yvonne K Kwok; Tak Yeung Leung; Cynthia C Morton; Kwong Wai Choy
Journal:  Genet Med       Date:  2021-03-26       Impact factor: 8.822
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