245 related articles for article (PubMed ID: 32299451)
1. A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability.
Maldžienė Ž; Vaitėnienė EM; Aleksiūnienė B; Utkus A; Preikšaitienė E
BMC Med Genomics; 2020 Apr; 13(1):63. PubMed ID: 32299451
[TBL] [Abstract][Full Text] [Related]
2. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.
Quintela I; Barros F; Fernandez-Prieto M; Martinez-Regueiro R; Castro-Gago M; Carracedo A; Gomez-Lado C; Eiris J
Am J Med Genet A; 2015 Dec; 167A(12):3113-20. PubMed ID: 26284580
[TBL] [Abstract][Full Text] [Related]
3. Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Rojnueangnit K; Charalsawadi C; Thammachote W; Pradabmuksiri A; Tim-Aroon T; Novelli A; Loddo S; Briuglia S; Concetta CM; Wattanasirichaigoon D; Jinawath N
Mol Genet Genomic Med; 2019 Sep; 7(9):e896. PubMed ID: 31390163
[TBL] [Abstract][Full Text] [Related]
4. A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.
Assawamakin A; Wattanasirichaigoon D; Tocharoentanaphol C; Waeteekul S; Tansatit M; Thongnoppakhun W; Limwongse C
Am J Med Genet A; 2012 Apr; 158A(4):901-8. PubMed ID: 22419381
[TBL] [Abstract][Full Text] [Related]
5. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M; McEntagart M; Clayton-Smith J; Platzer K; Shukla A; Girisha KM; Kaur A; Kaur P; Pfundt R; Veenstra-Knol H; Mancini GMS; Cappuccio G; Brunetti-Pierri N; Kortüm F; Hempel M; Denecke J; Lehman A; ; Kleefstra T; Stuurman KE; Wilke M; Thompson ML; Bebin EM; Bijlsma EK; Hoffer MJV; Peeters-Scholte C; Slavotinek A; Weiss WA; Yip T; Hodoglugil U; Whittle A; diMonda J; Neira J; Yang S; Kirby A; Pinz H; Lechner R; Sleutels F; Helbig I; McKeown S; Helbig K; Willaert R; Juusola J; Semotok J; Hadonou M; Short J; ; Yachelevich N; Lala S; Fernández-Jaen A; Pelayo JP; Klöckner C; Kamphausen SB; Abou Jamra R; Arelin M; Innes AM; Niskakoski A; Amin S; Williams M; Evans J; Smithson S; Smedley D; de Burca A; Kini U; Delatycki MB; Gallacher L; Yeung A; Pais L; Field M; Martin E; Charles P; Courtin T; Keren B; Iascone M; Cereda A; Poke G; Abadie V; Chalouhi C; Parthasarathy P; Halliday BJ; Robertson SP; Lyonnet S; Amiel J; Gordon CT
Am J Hum Genet; 2021 Jun; 108(6):1138-1150. PubMed ID: 33909992
[TBL] [Abstract][Full Text] [Related]
6. Antenatal description of large 4q13.2q21.23 deletion and outcomes.
Giguet-Valard AG; Thevenin C; Dreux S; Decatrelle V; Juve ML; Yazza S; Adenet C; Lesueur M; Bouvagnet P; Gueneret M
Mol Genet Genomic Med; 2024 Feb; 12(2):e2397. PubMed ID: 38351708
[TBL] [Abstract][Full Text] [Related]
7. Further defining the critical genes for the 4q21 microdeletion disorder.
Hu X; Chen X; Wu B; Soler IM; Chen S; Shen Y
Am J Med Genet A; 2017 Jan; 173(1):120-125. PubMed ID: 27604828
[TBL] [Abstract][Full Text] [Related]
8. 6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.
Mackenroth L; Hackmann K; Beyer A; Schallner J; Novotna B; Klink B; Schröck E; Di Donato N
Am J Med Genet A; 2015 Nov; 167A(11):2800-7. PubMed ID: 26334553
[TBL] [Abstract][Full Text] [Related]
9. Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
Dukes-Rimsky L; Guzauskas GF; Holden KR; Griggs R; Ladd S; Montoya Mdel C; DuPont BR; Srivastava AK
Am J Med Genet A; 2011 Sep; 155A(9):2146-53. PubMed ID: 21834054
[TBL] [Abstract][Full Text] [Related]
10. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
[TBL] [Abstract][Full Text] [Related]
11. Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
Tsang E; Rupps R; McGillivray B; Eydoux P; Marra M; Arbour L; Langlois S; Friedman JM; Zahir FR
Am J Med Genet A; 2012 Oct; 158A(10):2606-9. PubMed ID: 22903878
[TBL] [Abstract][Full Text] [Related]
12. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
[TBL] [Abstract][Full Text] [Related]
13. A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.
Aleksiūnienė B; Preiksaitiene E; Morkūnienė A; Ambrozaitytė L; Utkus A
Cytogenet Genome Res; 2018; 154(1):6-11. PubMed ID: 29421787
[TBL] [Abstract][Full Text] [Related]
14. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
Bonnet C; Andrieux J; Béri-Dexheimer M; Leheup B; Boute O; Manouvrier S; Delobel B; Copin H; Receveur A; Mathieu M; Thiriez G; Le Caignec C; David A; de Blois MC; Malan V; Philippe A; Cormier-Daire V; Colleaux L; Flori E; Dollfus H; Pelletier V; Thauvin-Robinet C; Masurel-Paulet A; Faivre L; Tardieu M; Bahi-Buisson N; Callier P; Mugneret F; Edery P; Jonveaux P; Sanlaville D
J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
[TBL] [Abstract][Full Text] [Related]
15. 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
Lipska BS; Brzeskwiniewicz M; Wierzba J; Morzuchi L; Piotrowski A; Limon J
Genet Couns; 2011; 22(4):353-63. PubMed ID: 22303795
[TBL] [Abstract][Full Text] [Related]
16. A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome.
Zarrei M; Merico D; Kellam B; Engchuan W; Scriver T; Jokhan R; Wilson MD; Parr J; Lemire EG; Stavropoulos DJ; Scherer SW
Am J Med Genet A; 2017 May; 173(5):1287-1293. PubMed ID: 28371330
[TBL] [Abstract][Full Text] [Related]
17. Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
Kuechler A; Buysse K; Clayton-Smith J; Le Caignec C; David A; Engels H; Kohlhase J; Mari F; Mortier G; Renieri A; Wieczorek D
Am J Med Genet A; 2011 Aug; 155A(8):1857-64. PubMed ID: 21739578
[TBL] [Abstract][Full Text] [Related]
18. A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects.
Shimojima K; Okamoto N; Yamamoto T
Congenit Anom (Kyoto); 2018 Jan; 58(1):36-38. PubMed ID: 28378413
[TBL] [Abstract][Full Text] [Related]
19. A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163 kb and microduplication of 288 kb at 11p13 and 11q22.3 without aniridia or eye anomalies.
Balay L; Totten E; Okada L; Zell S; Ticho B; Israel J; Kogan J
Am J Med Genet A; 2016 Jan; 170A(1):202-9. PubMed ID: 26419218
[TBL] [Abstract][Full Text] [Related]
20. Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family.
Marangi G; Orteschi D; Milano V; Mancano G; Zollino M
Am J Med Genet A; 2013 Nov; 161A(11):2890-3. PubMed ID: 24127197
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
