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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. 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]
4. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features. Caliskan MO; Karauzum SB; Mihci E; Tacoy S; Luleci G Genet Couns; 2005; 16(2):129-38. PubMed ID: 16080292 [TBL] [Abstract][Full Text] [Related]
5. Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. Valetto A; Orsini A; Bertini V; Toschi B; Bonuccelli A; Simi F; Sammartino I; Taddeucci G; Simi P; Saggese G Eur J Med Genet; 2012 May; 55(5):362-6. PubMed ID: 22548977 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders. Abdelhedi F; El Khattabi L; Essid N; Viot G; Letessier D; Lebbar A; Dupont JM Am J Med Genet A; 2016 Jul; 170(7):1912-7. PubMed ID: 27119754 [TBL] [Abstract][Full Text] [Related]
8. A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features. Floor K; Barøy T; Misceo D; Kanavin OJ; Fannemel M; Frengen E Eur J Med Genet; 2012 Dec; 55(12):695-9. PubMed ID: 22986108 [TBL] [Abstract][Full Text] [Related]
9. Array-based comparative genome hybridization in clinical genetics. Bar-Shira A; Rosner G; Rosner S; Goldstein M; Orr-Urtreger A Pediatr Res; 2006 Sep; 60(3):353-8. PubMed ID: 16857771 [TBL] [Abstract][Full Text] [Related]
11. What can we learn from old microdeletion syndromes using array-CGH screening? Mosca-Boidron AL; Bouquillon S; Faivre L; Callier P; Andrieux J; Marle N; Bonnet C; Vincent-Delorme C; Berri M; Plessis G; Manouvrier-Hanu S; Dieux-Coeslier A; Thauvin-Robinet C; Pipiras E; Delahaye A; Payet M; Ragon C; Masurel-Paulet A; Questiaux E; Benzacken B; Jonveaux P; Mugneret F; Holder-Espinasse M Clin Genet; 2012 Jul; 82(1):41-7. PubMed ID: 21722100 [TBL] [Abstract][Full Text] [Related]
12. Phenotypic and Brain Imaging Findings Associated With a 10p Proximal Deletion Including the WAC Gene: Case Report and Literature Review. Bolat H; Derin H; Ünsel-Bolat G Cogn Behav Neurol; 2022 Sep; 35(3):221-226. PubMed ID: 35766809 [TBL] [Abstract][Full Text] [Related]
13. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay. Papoulidis I; Paspaliaris V; Papageorgiou E; Siomou E; Dagklis T; Sotiriou S; Thomaidis L; Manolakos E Cytogenet Genome Res; 2015; 145(1):19-24. PubMed ID: 25925190 [TBL] [Abstract][Full Text] [Related]
14. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996 [TBL] [Abstract][Full Text] [Related]
15. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features. Preiksaitiene E; Männik K; Dirse V; Utkus A; Ciuladaite Z; Kasnauskiene J; Kurg A; Kučinskas V Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074 [TBL] [Abstract][Full Text] [Related]
16. Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31. Sosoi S; Streata I; Tudorache S; Burada F; Siminel M; Cernea N; Ioana M; Iliescu DG; Mixich F J Hum Genet; 2015 Apr; 60(4):183-5. PubMed ID: 25652353 [TBL] [Abstract][Full Text] [Related]
17. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Battaglia A; Hoyme HE; Dallapiccola B; Zackai E; Hudgins L; McDonald-McGinn D; Bahi-Buisson N; Romano C; Williams CA; Brailey LL; Zuberi SM; Carey JC Pediatrics; 2008 Feb; 121(2):404-10. PubMed ID: 18245432 [TBL] [Abstract][Full Text] [Related]
18. A patient with 9q subtelomeric deletion syndrome with additional findings. Tug E; Cavdarli B; Karaoguz MY; Percin FE Genet Couns; 2012; 23(4):465-71. PubMed ID: 23431745 [TBL] [Abstract][Full Text] [Related]
19. Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15. Hancarova M; Vejvalkova S; Trkova M; Drabova J; Dleskova A; Vlckova M; Sedlacek Z Gene; 2013 Mar; 516(1):158-61. PubMed ID: 23266801 [TBL] [Abstract][Full Text] [Related]
20. Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients. Tos T; Karaman A; Aksoy A; Tukun A Genet Couns; 2012; 23(2):289-96. PubMed ID: 22876589 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]