These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

105 related articles for article (PubMed ID: 29230163)

  • 1. Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting
    Chatron N; Thibault L; Lespinasse J; Labalme A; Schluth-Bolard C; Till M; Edery P; Touraine R; des Portes V; Lesca G; Sanlaville D
    Mol Syndromol; 2017 Nov; 8(6):325-330. PubMed ID: 29230163
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication.
    Qiao Y; Bagheri H; Tang F; Badduke C; Martell S; Lewis SME; Robinson W; Connolly MB; Arbour L; Rajcan-Separovic E
    Eur J Med Genet; 2019 Feb; 62(2):103-108. PubMed ID: 29908350
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
    Laino L; Bottillo I; Piedimonte C; Bernardini L; Torres B; Grammatico B; Bargiacchi S; Mulargia C; Calvani M; Cardona F; Castori M; Grammatico P
    Eur J Paediatr Neurol; 2016 Nov; 20(6):971-976. PubMed ID: 27470653
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.
    Borlot F; Regan BM; Bassett AS; Stavropoulos DJ; Andrade DM
    JAMA Neurol; 2017 Nov; 74(11):1301-1311. PubMed ID: 28846756
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.
    Dastan J; Chijiwa C; Tang F; Martell S; Qiao Y; Rajcan-Separovic E; Lewis MES
    BMC Med Genet; 2016 Nov; 17(1):78. PubMed ID: 27832746
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.
    Kim MK; Seok HH; Kim YS; Chin MU; Sung SR; Lee WS; Shim SH; Yoon TK
    Gene; 2014 Jan; 534(1):54-9. PubMed ID: 24148559
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.
    Behnecke A; Hinderhofer K; Bartsch O; Nümann A; Ipach ML; Damatova N; Haaf T; Dufke A; Riess O; Moog U
    Am J Med Genet A; 2011 Feb; 155A(2):372-9. PubMed ID: 21271657
    [TBL] [Abstract][Full Text] [Related]  

  • 8. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
    Cappuccio G; Vitiello F; Casertano A; Fontana P; Genesio R; Bruzzese D; Ginocchio VM; Mormile A; Nitsch L; Andria G; Melis D
    Ital J Pediatr; 2016 Apr; 42():39. PubMed ID: 27072107
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.
    Maurin ML; Arfeuille C; Sonigo P; Rondeau S; Vekemans M; Turleau C; Ville Y; Malan V
    Cytogenet Genome Res; 2017; 151(3):115-118. PubMed ID: 28273668
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability.
    Chen CP; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Chen WL; Yang CW; Wang W
    Taiwan J Obstet Gynecol; 2018 Aug; 57(4):578-582. PubMed ID: 30122582
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and molecular characterization of three genomic rearrangements at chromosome 22q13.3 associated with autism spectrum disorder.
    Chen CH; Chen HI; Liao HM; Chen YJ; Fang JS; Lee KF; Gau SS
    Psychiatr Genet; 2017 Feb; 27(1):23-33. PubMed ID: 27846046
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
    Honda S; Hayashi S; Imoto I; Toyama J; Okazawa H; Nakagawa E; Goto Y; Inazawa J
    J Hum Genet; 2010 Sep; 55(9):590-9. PubMed ID: 20613765
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An Xp21.3p11.4 duplication observed in a boy with intellectual deficiency and speech delay and his asymptomatic mother.
    Wu L; Liu J; Lv W; Wen J; Xia Y; Liang D
    Birth Defects Res A Clin Mol Teratol; 2013 Jul; 97(7):467-70. PubMed ID: 23828844
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.
    Linhares ND; Valadares ER; da Costa SS; Arantes RR; de Oliveira LR; Rosenberg C; Vianna-Morgante AM; Svartman M
    Meta Gene; 2016 Sep; 9():185-90. PubMed ID: 27617217
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.
    Zhuang J; Wang Y; Zeng S; Lv C; Lin Y; Jiang Y
    Mol Cytogenet; 2019; 12():50. PubMed ID: 31857824
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1.
    Chen CP; Yip HK; Wang LK; Chern SR; Chen SW; Lai ST; Wu PS; Wang W
    Taiwan J Obstet Gynecol; 2017 Jun; 56(3):385-389. PubMed ID: 28600056
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene.
    Zhang Z; Yagi M; Okizuka Y; Awano H; Takeshima Y; Matsuo M
    J Hum Genet; 2009 Aug; 54(8):466-73. PubMed ID: 19609279
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems.
    Barone C; Bianca S; Luciano D; Di Benedetto D; Vinci M; Fichera M
    Am J Med Genet A; 2013 Jun; 161A(6):1381-5. PubMed ID: 23613341
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
    Qi Z; Jeng LJ; Slavotinek A; Yu J
    BMC Med Genomics; 2015 Jul; 8():38. PubMed ID: 26174853
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Xp-duplications with and without sex reversal.
    Baumstark A; Barbi G; Djalali M; Geerkens C; Mitulla B; Mattfeldt T; de Almeida JC; Vargas FR; Llerena Júnior JC; Vogel W; Just W
    Hum Genet; 1996 Jan; 97(1):79-86. PubMed ID: 8557267
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.