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22. 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]
23. Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype. Quack B; Van Roy N; Verschraegen-Spae MR; Klein F Ann Genet; 1992; 35(4):241-4. PubMed ID: 1296524 [TBL] [Abstract][Full Text] [Related]
24. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Wakui K; Gregato G; Ballif BC; Glotzbach CD; Bailey KA; Kuo PL; Sue WC; Sheffield LJ; Irons M; Gomez EG; Hecht JT; Potocki L; Shaffer LG Eur J Hum Genet; 2005 May; 13(5):528-40. PubMed ID: 15852040 [TBL] [Abstract][Full Text] [Related]
25. Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH. Sukumar S; Wang S; Hoang K; Vanchiere CM; England K; Fick R; Pagon B; Reddy KS Am J Med Genet; 1999 Nov; 87(1):17-22. PubMed ID: 10528241 [TBL] [Abstract][Full Text] [Related]
26. [Ring chromosome 8: microcephaly, mental retardation and minor facial anomalies with adhesive behavioral phenotype]. Bibas Bonet H; Fontenla M; Fauze R; G de Pinat I Rev Neurol; 2001 Apr 16-30; 32(8):746-50. PubMed ID: 11391511 [TBL] [Abstract][Full Text] [Related]
27. A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. Beall MH; Falk RE; Ying KL Am J Med Genet; 1988 Nov; 31(3):553-7. PubMed ID: 3067576 [TBL] [Abstract][Full Text] [Related]
28. Chromosome 10qter deletion syndrome: a review and report of three new cases. Wulfsberg EA; Weaver RP; Cunniff CM; Jones MC; Jones KL Am J Med Genet; 1989 Mar; 32(3):364-7. PubMed ID: 2658586 [TBL] [Abstract][Full Text] [Related]
29. Deletions of the long arm of chromosome 10. Shapiro SD; Hansen KL; Pasztor LM; DiLiberti JH; Jorgenson RJ; Young RS; Moore CM Am J Med Genet; 1985 Jan; 20(1):181-96. PubMed ID: 3970071 [TBL] [Abstract][Full Text] [Related]
30. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome. Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399 [TBL] [Abstract][Full Text] [Related]
31. A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21-23 leads to 1q25. Taysi K; Sekhon GS; Hillman RE Am J Med Genet; 1982 Dec; 13(4):423-30. PubMed ID: 7158642 [No Abstract] [Full Text] [Related]
32. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review. Zollino M; Murdolo M; Marangi G; Pecile V; Galasso C; Mazzanti L; Neri G Am J Med Genet C Semin Med Genet; 2008 Nov; 148C(4):257-69. PubMed ID: 18932124 [TBL] [Abstract][Full Text] [Related]
33. Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. Tranebjaerg L; Nielsen KB; Tommerup N; Warburg M; Mikkelsen M Am J Med Genet; 1988 Apr; 29(4):739-53. PubMed ID: 3400720 [TBL] [Abstract][Full Text] [Related]
34. Heart disease associated with deletion of the short arm of chromosome 18. Movahhedian HR; Kane HA; Borgaonkar D; McDermott M; Septimus S Del Med J; 1991 May; 63(5):285-9. PubMed ID: 1860515 [TBL] [Abstract][Full Text] [Related]
35. Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth. Balci S; Yuksel Konuk B; Atik F; Oguz AK; Ergun MA; Baltaci V; Kosyakova N; Liehr T Genet Couns; 2010; 21(3):317-24. PubMed ID: 20964123 [TBL] [Abstract][Full Text] [Related]
36. Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described cases. Tempesta S; Sollima D; Ghezzo S; Politi V; Sinigaglia B; Balducci F; Celso B; Restuccia A; Stefani M; Cernetti R; Marzocchi C; Ciccone R; Zuffardi O; Bovicelli L; Santarini L Eur J Med Genet; 2008; 51(6):639-45. PubMed ID: 18757045 [TBL] [Abstract][Full Text] [Related]
37. Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. Bartholdi D; Toelle SP; Steiner B; Boltshauser E; Schinzel A; Riegel M Eur J Med Genet; 2008; 51(2):113-23. PubMed ID: 18262484 [TBL] [Abstract][Full Text] [Related]
38. Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome. Courtens W; Speleman F; Messiaen L; Bormans J; Van Roy N; Vamos E Am J Med Genet; 1997 Sep; 71(4):479-85. PubMed ID: 9286460 [TBL] [Abstract][Full Text] [Related]
39. Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. Verri A; Maraschio P; Devriendt K; Uggetti C; Spadoni E; Haeusler E; Federico A Ann Genet; 2004; 47(3):281-7. PubMed ID: 15337474 [TBL] [Abstract][Full Text] [Related]
40. Report of two cases of distal deletion of the long arm of chromosome 6. Stevens CA; Fineman RM; Breg WR; Silken AB Am J Med Genet; 1988 Apr; 29(4):807-14. PubMed ID: 3400725 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]