161 related articles for article (PubMed ID: 23023937)
21. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome.
Zollino M; Di Stefano C; Zampino G; Mastroiacovo P; Wright TJ; Sorge G; Selicorni A; Tenconi R; Zappalà A; Battaglia A; Di Rocco M; Palka G; Pallotta R; Altherr MR; Neri G
Am J Med Genet; 2000 Sep; 94(3):254-61. PubMed ID: 10995514
[TBL] [Abstract][Full Text] [Related]
22. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
Perlman SJ; Kulkarni S; Manwaring L; Shinawi M
Am J Med Genet A; 2013 Apr; 161A(4):711-6. PubMed ID: 23494996
[TBL] [Abstract][Full Text] [Related]
23. Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
Chatron N; Haddad V; Andrieux J; Désir J; Boute O; Dieux A; Baumann C; Drunat S; Gérard M; Bonnet C; Leheup B; Till M; Rossi M; Flori E; Alembik Y; Stewart H; McParland J; Bernardini L; Castelluccio P; Roos L; Tümer Z; Fagan K; Hackett A; Bain N; van Haeringen A; Ruivenkamp C; Benzacken B; Sanlaville D; Edery P; Aboura A; Schluth-Bolard C
Am J Med Genet A; 2015 May; 167A(5):1008-17. PubMed ID: 25728055
[TBL] [Abstract][Full Text] [Related]
24. Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.
Margari L; Di Cosola ML; Buttiglione M; Pansini A; Buonadonna AL; Craig F; Cariola F; Petruzzelli MG; Gentile M
Am J Med Genet A; 2012 Jul; 158A(7):1713-8. PubMed ID: 22639464
[TBL] [Abstract][Full Text] [Related]
25. TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.
Palumbo O; Fichera M; Palumbo P; Rizzo R; Mazzolla E; Cocuzza DM; Carella M; Mattina T
Am J Med Genet A; 2014 Mar; 164A(3):828-33. PubMed ID: 24458984
[TBL] [Abstract][Full Text] [Related]
26. 17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.
Giordano L; Palestra F; Giuffrida MG; Molinaro A; Iodice A; Bernardini L; La Boria P; Accorsi P; Novelli A
Am J Med Genet A; 2014 Jan; 164A(1):225-30. PubMed ID: 24501763
[TBL] [Abstract][Full Text] [Related]
27. Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
Mitter D; Chiaie BD; Lüdecke HJ; Gillessen-Kaesbach G; Bohring A; Kohlhase J; Caliebe A; Siebert R; Roepke A; Ramos-Arroyo MA; Nieva B; Menten B; Loeys B; Mortier G; Wieczorek D
Am J Med Genet A; 2010 May; 152A(5):1213-24. PubMed ID: 20425826
[TBL] [Abstract][Full Text] [Related]
28. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Novara F; Rinaldi B; Sisodiya SM; Coppola A; Giglio S; Stanzial F; Benedicenti F; Donaldson A; Andrieux J; Stapleton R; Weber A; Reho P; van Ravenswaaij-Arts C; Kerstjens-Frederikse WS; Vermeesch JR; Devriendt K; Bacino CA; Delahaye A; Maas SM; Iolascon A; Zuffardi O
Eur J Hum Genet; 2017 Jun; 25(6):694-701. PubMed ID: 28422132
[TBL] [Abstract][Full Text] [Related]
29. Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
Huynh MT; Gérard M; Ranguin K; Pichon O; Ghesh L; Alfallaj K; Joubert M; Bézieau S; Bénéteau C
Neurogenetics; 2021 Jul; 22(3):195-206. PubMed ID: 34132911
[TBL] [Abstract][Full Text] [Related]
30. Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Rosenfeld JA; Fox JE; Descartes M; Brewer F; Stroud T; Gorski JL; Upton SJ; Moeschler JB; Monteleone B; Neill NJ; Lamb AN; Ballif BC; Shaffer LG; Ravnan JB
Am J Med Genet A; 2015 Feb; 167A(2):345-53. PubMed ID: 25756153
[TBL] [Abstract][Full Text] [Related]
31. A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations.
Schlade-Bartusiak K; Ardinger H; Cox DW
Am J Med Genet A; 2009 May; 149A(5):1012-8. PubMed ID: 19365838
[TBL] [Abstract][Full Text] [Related]
32. Hearing impairment in a female infant with interstitial deletion of 2q24.1q24.3.
Ono H; Kurosawa K; Wakamatsu N; Masuda S
Congenit Anom (Kyoto); 2017 Jul; 57(4):118-121. PubMed ID: 28039919
[TBL] [Abstract][Full Text] [Related]
33. Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.
Hucthagowder V; Liu TC; Paciorkowski AR; Thio LL; Keller MS; Anderson CD; Herman T; Dehner LP; Grange DK; Kulkarni S
Eur J Med Genet; 2012; 55(8-9):485-9. PubMed ID: 22579565
[TBL] [Abstract][Full Text] [Related]
34. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?
Lim BC; Hwang H; Kim H; Chae JH; Choi J; Kim KJ; Hwang YS; Yum MS; Ko TS
Epilepsy Res; 2015 Jan; 109():34-9. PubMed ID: 25524840
[TBL] [Abstract][Full Text] [Related]
35. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.
Jedraszak G; Demeer B; Mathieu-Dramard M; Andrieux J; Receveur A; Weber A; Maye U; Foulds N; Temple IK; Crolla J; Alex-Cordier MP; Sanlaville D; Ewans L; Wilson M; Armstrong R; Clarkson A; Copin H; Morin G
Am J Med Genet A; 2015 Mar; 167A(3):504-11. PubMed ID: 25572454
[TBL] [Abstract][Full Text] [Related]
36. Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.
Krepischi AC; Knijnenburg J; Bertola DR; Kim CA; Pearson PL; Bijlsma E; Szuhai K; Kok F; Vianna-Morgante AM; Rosenberg C
Epilepsia; 2010 Dec; 51(12):2457-60. PubMed ID: 21204806
[TBL] [Abstract][Full Text] [Related]
37. Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris.
Al-Maawali A; Marshall CR; Scherer SW; Dupuis L; Mendoza-Londono R; Stavropoulos DJ
Am J Med Genet A; 2014 Mar; 164A(3):796-800. PubMed ID: 24375972
[TBL] [Abstract][Full Text] [Related]
38. Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.
Papadopoulou E; Sismani C; Christodoulou C; Ioannides M; Kalmanti M; Patsalis P
Am J Med Genet A; 2010 Jun; 152A(6):1515-22. PubMed ID: 20503328
[TBL] [Abstract][Full Text] [Related]
39. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Rosenfeld JA; Amrom D; Andermann E; Andermann F; Veilleux M; Curry C; Fisher J; Deputy S; Aylsworth AS; Powell CM; Manickam K; Heese B; Maisenbacher M; Stevens C; Ellison JW; Upton S; Moeschler J; Torres-Martinez W; Stevens A; Marion R; Pereira EM; Babcock M; Morrow B; Sahoo T; Lamb AN; Ballif BC; Paciorkowski AR; Shaffer LG
Neurogenetics; 2012 Feb; 13(1):31-47. PubMed ID: 22218741
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
