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.
149 related articles for article (PubMed ID: 38423574)
1. Global developmental delay and a de novo deletion of the 16p13.13 region. Krakowski A; Hoang N; Trost B; Summers J; Ambrozewicz P; Vorstman J BMJ Case Rep; 2024 Feb; 17(2):. PubMed ID: 38423574 [TBL] [Abstract][Full Text] [Related]
2. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696 [TBL] [Abstract][Full Text] [Related]
3. Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. Tropeano M; Ahn JW; Dobson RJ; Breen G; Rucker J; Dixit A; Pal DK; McGuffin P; Farmer A; White PS; Andrieux J; Vassos E; Ogilvie CM; Curran S; Collier DA PLoS One; 2013; 8(4):e61365. PubMed ID: 23637818 [TBL] [Abstract][Full Text] [Related]
4. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion. Nelson M; Quinonez S; Ackley T; Iyer RK; Innis JW Am J Med Genet A; 2011 Mar; 155A(3):612-7. PubMed ID: 21344629 [TBL] [Abstract][Full Text] [Related]
7. A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies. Ma R; Deng L; Xia Y; Wei X; Cao Y; Guo R; Zhang R; Guo J; Liang D; Wu L Sci Rep; 2017 Mar; 7():44446. PubMed ID: 28322228 [TBL] [Abstract][Full Text] [Related]
8. Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development. Safizadeh Shabestari SA; Nassir N; Sopariwala S; Karimov I; Tambi R; Zehra B; Kosaji N; Akter H; Berdiev BK; Uddin M Hum Genet; 2023 Aug; 142(8):1201-1213. PubMed ID: 36383254 [TBL] [Abstract][Full Text] [Related]
9. A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk. Younkin SG; Scharpf RB; Schwender H; Parker MM; Scott AF; Marazita ML; Beaty TH; Ruczinski I BMC Genet; 2014 Feb; 15():24. PubMed ID: 24528994 [TBL] [Abstract][Full Text] [Related]
10. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. Zahir F; Firth HV; Baross A; Delaney AD; Eydoux P; Gibson WT; Langlois S; Martin H; Willatt L; Marra MA; Friedman JM J Med Genet; 2007 Sep; 44(9):556-61. PubMed ID: 17545556 [TBL] [Abstract][Full Text] [Related]
11. Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review. Bourgois A; Bizaoui V; Colson C; Vincent-Devulder A; Molin A; Gérard M; Gruchy N Am J Med Genet A; 2024 Mar; 194(3):e63457. PubMed ID: 37881147 [TBL] [Abstract][Full Text] [Related]
12. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. Rosenfeld JA; Drautz JM; Clericuzio CL; Cushing T; Raskin S; Martin J; Tervo RC; Pitarque JA; Nowak DM; Karolak JA; Lamb AN; Schultz RA; Ballif BC; Bejjani BA; Gajecka M; Shaffer LG Am J Med Genet A; 2011 Aug; 155A(8):1906-16. PubMed ID: 21744490 [TBL] [Abstract][Full Text] [Related]
13. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Mullen SA; Carvill GL; Bellows S; Bayly MA; Trucks H; Lal D; Sander T; Berkovic SF; Dibbens LM; Scheffer IE; Mefford HC Neurology; 2013 Oct; 81(17):1507-14. PubMed ID: 24068782 [TBL] [Abstract][Full Text] [Related]
14. Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. Conte F; Oti M; Dixon J; Carels CE; Rubini M; Zhou H Hum Genet; 2016 Jan; 135(1):41-59. PubMed ID: 26561393 [TBL] [Abstract][Full Text] [Related]
15. Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability. Lee JS; Hwang H; Kim SY; Kim KJ; Choi JS; Woo MJ; Choi YM; Jun JK; Lim BC; Chae JH Ann Lab Med; 2018 Sep; 38(5):473-480. PubMed ID: 29797819 [TBL] [Abstract][Full Text] [Related]
16. miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability. Qiao Y; Badduke C; Mercier E; Lewis SM; Pavlidis P; Rajcan-Separovic E BMC Genomics; 2013 Aug; 14():544. PubMed ID: 23937676 [TBL] [Abstract][Full Text] [Related]
17. Clinical significance of de novo and inherited copy-number variation. Vulto-van Silfhout AT; Hehir-Kwa JY; van Bon BW; Schuurs-Hoeijmakers JH; Meader S; Hellebrekers CJ; Thoonen IJ; de Brouwer AP; Brunner HG; Webber C; Pfundt R; de Leeuw N; de Vries BB Hum Mutat; 2013 Dec; 34(12):1679-87. PubMed ID: 24038936 [TBL] [Abstract][Full Text] [Related]
18. De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability. Brett MS; Ng IS; Lim EC; Yong MH; Li Z; Lai A; Tan EC Gene; 2013 Mar; 517(1):82-8. PubMed ID: 23313878 [TBL] [Abstract][Full Text] [Related]
19. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. Correa FA; Jorge AA; Nakaguma M; Canton AP; Costa SS; Funari MF; Lerario AM; Franca MM; Carvalho LR; Krepischi AC; Arnhold IJ; Rosenberg C; Mendonca BB Clin Endocrinol (Oxf); 2018 Mar; 88(3):425-431. PubMed ID: 29265571 [TBL] [Abstract][Full Text] [Related]
20. Overlapping Interstitial Deletions of the Region 9q22.33 to 9q33.3 of Three Patients Allow Pinpointing Candidate Genes for Epilepsy and Cleft Lip and Palate. Szalai R; Till A; Szabo A; Melegh B; Hadzsiev K; Czako M Mol Syndromol; 2023 Apr; 14(2):109-122. PubMed ID: 37064343 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]