367 related articles for article (PubMed ID: 23279911)
21. 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]
22. 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]
23. 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]
24. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Muller EA; Aradhya S; Atkin JF; Carmany EP; Elliott AM; Chudley AE; Clark RD; Everman DB; Garner S; Hall BD; Herman GE; Kivuva E; Ramanathan S; Stevenson DA; Stockton DW; Hudgins L
Am J Med Genet A; 2012 Feb; 158A(2):391-9. PubMed ID: 22190277
[TBL] [Abstract][Full Text] [Related]
25. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
Molin AM; Andrieux J; Koolen DA; Malan V; Carella M; Colleaux L; Cormier-Daire V; David A; de Leeuw N; Delobel B; Duban-Bedu B; Fischetto R; Flinter F; Kjaergaard S; Kok F; Krepischi AC; Le Caignec C; Ogilvie CM; Maia S; Mathieu-Dramard M; Munnich A; Palumbo O; Papadia F; Pfundt R; Reardon W; Receveur A; Rio M; Ronsbro Darling L; Rosenberg C; Sá J; Vallee L; Vincent-Delorme C; Zelante L; Bondeson ML; Annerén G
J Med Genet; 2012 Feb; 49(2):104-9. PubMed ID: 22180640
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
Brunetti-Pierri N; Paciorkowski AR; Ciccone R; Della Mina E; Bonaglia MC; Borgatti R; Schaaf CP; Sutton VR; Xia Z; Jelluma N; Ruivenkamp C; Bertrand M; de Ravel TJ; Jayakar P; Belli S; Rocchetti K; Pantaleoni C; D'Arrigo S; Hughes J; Cheung SW; Zuffardi O; Stankiewicz P
Eur J Hum Genet; 2011 Jan; 19(1):102-7. PubMed ID: 20736978
[TBL] [Abstract][Full Text] [Related]
28. 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.
Gerundino F; Marseglia G; Pescucci C; Pelo E; Benelli M; Giachini C; Federighi B; Antonelli C; Torricelli F
Eur J Med Genet; 2014; 57(11-12):649-53. PubMed ID: 25451714
[TBL] [Abstract][Full Text] [Related]
29. [Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes].
Quintela I; Barros-Angueira F; Perez-Gay L; Dacruz D; Castro-Gago M; Carracedo A; Eiris-Punal J
Rev Neurol; 2015 Sep; 61(6):255-60. PubMed ID: 26350776
[TBL] [Abstract][Full Text] [Related]
30. Neurodevelopmental outcome in Angelman syndrome: genotype-phenotype correlations.
Mertz LG; Thaulov P; Trillingsgaard A; Christensen R; Vogel I; Hertz JM; Ostergaard JR
Res Dev Disabil; 2014 Jul; 35(7):1742-7. PubMed ID: 24656292
[TBL] [Abstract][Full Text] [Related]
31. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE; Banka S; Ajeawung NF; Molidperee S; Chen GG; Koenig MK; Adejumo RB; Till M; Harbord M; Perrier R; Lemyre E; Boucher RM; Skotko BG; Waxler JL; Thomas MA; Hodge JC; Gecz J; Nicholl J; McGregor L; Linden T; Sisodiya SM; Sanlaville D; Cheung SW; Ernst C; Campeau PM
Genet Med; 2019 May; 21(5):1058-1064. PubMed ID: 30245510
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
Dhar SU; del Gaudio D; German JR; Peters SU; Ou Z; Bader PI; Berg JS; Blazo M; Brown CW; Graham BH; Grebe TA; Lalani S; Irons M; Sparagana S; Williams M; Phillips JA; Beaudet AL; Stankiewicz P; Patel A; Cheung SW; Sahoo T
Am J Med Genet A; 2010 Mar; 152A(3):573-81. PubMed ID: 20186804
[TBL] [Abstract][Full Text] [Related]
34. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.
Nambot S; Masurel A; El Chehadeh S; Mosca-Boidron AL; Thauvin-Robinet C; Lefebvre M; Marle N; Thevenon J; Perez-Martin S; Dulieu V; Huet F; Plessis G; Andrieux J; Jouk PS; Billy-Lopez G; Coutton C; Morice-Picard F; Delrue MA; Heron D; Rooryck C; Goldenberg A; Saugier-Veber P; Joly-Hélas G; Calenda P; Kuentz P; Manouvrier-Hanu S; Dupuis-Girod S; Callier P; Faivre L
Eur J Hum Genet; 2016 Jun; 24(6):830-7. PubMed ID: 26395556
[TBL] [Abstract][Full Text] [Related]
35. Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Tenorio J; Nevado J; González-Meneses A; Arias P; Dapía I; Venegas-Vega CA; Calvente M; Hernández A; Landera L; Ramos S; ; Cigudosa JC; Pérez-Jurado LA; Lapunzina P
Clin Genet; 2020 Mar; 97(3):467-476. PubMed ID: 31972898
[TBL] [Abstract][Full Text] [Related]
36. Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.
Caselli R; Speciale C; Pescucci C; Uliana V; Sampieri K; Bruttini M; Longo I; De Francesco S; Pramparo T; Zuffardi O; Frezzotti R; Acquaviva A; Hadjistilianou T; Renieri A; Mari F
J Hum Genet; 2007; 52(6):535-542. PubMed ID: 17502991
[TBL] [Abstract][Full Text] [Related]
37. 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.
Catusi I; Garzo M; Capra AP; Briuglia S; Baldo C; Canevini MP; Cantone R; Elia F; Forzano F; Galesi O; Grosso E; Malacarne M; Peron A; Romano C; Saccani M; Larizza L; Recalcati MP
Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33925474
[TBL] [Abstract][Full Text] [Related]
38. A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy.
Verhoeven WM; Egger JI; Feenstra I; de Leeuw N
Eur J Med Genet; 2012 May; 55(5):358-61. PubMed ID: 22138216
[TBL] [Abstract][Full Text] [Related]
39. Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.
Fanizza I; Bertuzzo S; Beri S; Scalera E; Massagli A; Sali ME; Giorda R; Bonaglia MC
Eur J Med Genet; 2014 Jul; 57(7):334-8. PubMed ID: 24780630
[TBL] [Abstract][Full Text] [Related]
40. Neurological features and long-term follow-up in 15q11.2-13.1 duplication.
Coppola A; Ruosi P; Santulli L; Striano S; Zara F; Striano P; Sisodiya SM
Eur J Med Genet; 2013 Nov; 56(11):614-8. PubMed ID: 24075935
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
