236 related articles for article (PubMed ID: 22303795)
1. 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]
2. 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]
3. 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
Yamanishi T; Nishio J; Miya S; Okamoto N; Takahashi A; Toribe Y; Mukai T; Kobayashi C
Cleft Palate Craniofac J; 2008 May; 45(3):325-8. PubMed ID: 18452363
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
Kasnauskiene J; Ciuladaite Z; Preiksaitiene E; Matulevičienė A; Alexandrou A; Koumbaris G; Sismani C; Pepalytė I; Patsalis PC; Kučinskas V
Eur J Med Genet; 2012 Apr; 55(4):274-7. PubMed ID: 22450339
[TBL] [Abstract][Full Text] [Related]
6. Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia.
Kozma C; Chong SS; Meck JM
Am J Med Genet; 1999 Oct; 86(4):316-20. PubMed ID: 10494085
[TBL] [Abstract][Full Text] [Related]
7. Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
Chen CP; Lin SP; Chern SR; Tsai FJ; Lee MS; Chen YJ; Wang W
Genet Couns; 2011; 22(4):425-30. PubMed ID: 22303804
[TBL] [Abstract][Full Text] [Related]
8. A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.
Giordano M; Gertosio C; Pagani S; Meazza C; Fusco I; Bozzola E; Bozzola M
BMC Med Genet; 2015 Sep; 16():74. PubMed ID: 26323392
[TBL] [Abstract][Full Text] [Related]
9. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
Becker K; Di Donato N; Holder-Espinasse M; Andrieux J; Cuisset JM; Vallée L; Plessis G; Jean N; Delobel B; Thuresson AC; Annerén G; Ravn K; Tümer Z; Tinschert S; Schrock E; Jønch AE; Hackmann K
Eur J Med Genet; 2012; 55(8-9):490-7. PubMed ID: 22561202
[TBL] [Abstract][Full Text] [Related]
10. Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.
Hickey SE; Biswas S; Thrush DL; Pyatt RE; Gastier-Foster JM; Astbury C; Atkin J
Eur J Med Genet; 2013 Sep; 56(9):521-5. PubMed ID: 23895773
[TBL] [Abstract][Full Text] [Related]
11. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
Callier P; Faivre L; Marle N; Thauvin-Robinet C; Mosca AL; Masurel-Paulet A; Borgnon J; Falcon-Eicher S; Danino A; Malka G; Le Merrer M; Huet F; Mugneret F
Eur J Med Genet; 2007; 50(6):455-64. PubMed ID: 17720646
[TBL] [Abstract][Full Text] [Related]
12. Interstitial deletion of (17)(p11.2p11.2) in nine patients.
Smith AC; McGavran L; Robinson J; Waldstein G; Macfarlane J; Zonona J; Reiss J; Lahr M; Allen L; Magenis E
Am J Med Genet; 1986 Jul; 24(3):393-414. PubMed ID: 2425619
[TBL] [Abstract][Full Text] [Related]
13. A Novel 23.1 Mb Interstitial Deletion Involving 7q22.3q32.1 in a Girl with Short Stature, Motor Delay, and Craniofacial Dysmorphism.
Del Refugio Rivera-Vega M; Gómez-Del Angel LA; Valdes-Miranda JM; Pérez-Cabrera A; Gonzalez-Huerta LM; Toral-López J; Cuevas-Covarrubias S
Cytogenet Genome Res; 2015; 145(1):1-5. PubMed ID: 25870946
[TBL] [Abstract][Full Text] [Related]
14. Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter.
Chao A; Lee YS; Chao AS; Wang TH; Chang SD
Birth Defects Res A Clin Mol Teratol; 2006 Oct; 76(10):739-43. PubMed ID: 17022067
[TBL] [Abstract][Full Text] [Related]
15. A boy with mild mental retardation, mild sensorineural hearing loss and mild facial dysmorphism caused by a 19p13.2 deletion: a case report and review of the literature.
Schwemmle C; Rost I; Spranger S; Jungheim M; Ptok M
Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1190-3. PubMed ID: 24814572
[TBL] [Abstract][Full Text] [Related]
16. 2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.
Rashidi-Nezhad A; Parvaneh N; Farzanfar F; Azimi C; Harewood L; Akrami SM; Reymond A
Eur J Med Genet; 2012 Mar; 55(3):203-10. PubMed ID: 22370062
[TBL] [Abstract][Full Text] [Related]
17. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
Thevenon J; Callier P; Poquet H; Bache I; Menten B; Malan V; Cavaliere ML; Girod JP; Thauvin-Robinet C; El Chehadeh S; Pinoit JM; Huet F; Verges B; Petit JM; Mosca-Boidron AL; Marle N; Mugneret F; Masurel-Paulet A; Novelli A; Tümer Z; Loeys B; Lyonnet S; Faivre L
J Med Genet; 2014 Jan; 51(1):21-7. PubMed ID: 24133203
[TBL] [Abstract][Full Text] [Related]
18. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
Bremer A; Schoumans J; Nordenskjöld M; Anderlid BM; Giacobini M
Eur J Med Genet; 2009; 52(5):358-62. PubMed ID: 19576304
[TBL] [Abstract][Full Text] [Related]
19. The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3.
Dostal A; Nemeckova J; Gaillyova R
J Craniomaxillofac Surg; 2009 Jul; 37(5):272-5. PubMed ID: 19157891
[TBL] [Abstract][Full Text] [Related]
20. Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly.
Kulharya AS; Maberry M; Kukolich MK; Day DW; Schneider NR; Wilson GN; Tonk V
Am J Med Genet; 1995 Jan; 55(2):165-70. PubMed ID: 7717415
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]