193 related articles for article (PubMed ID: 8418650)
21. Mosaicism in Pallister i(12p) syndrome.
Wenger SL; Boone LY; Steele MW
Am J Med Genet; 1990 Apr; 35(4):523-5. PubMed ID: 2333883
[TBL] [Abstract][Full Text] [Related]
22. The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa.
Manasse BF; Lekgate N; Pfaffenzeller WM; de Ravel TJ
Clin Dysmorphol; 2000 Jul; 9(3):163-5. PubMed ID: 10955474
[TBL] [Abstract][Full Text] [Related]
23. Isochromosome 12p mosaicism (Pallister-Killian syndrome): newborn diagnosis by direct bone marrow analysis.
Ward BE; Hayden MW; Robinson A
Am J Med Genet; 1988 Dec; 31(4):835-9. PubMed ID: 3239575
[TBL] [Abstract][Full Text] [Related]
24. Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: a new diagnostic approach.
Shouman N; Pabst B; Arslan-Kirchner M; Eckardt A; Schönweiler R; Ptok M; Mehraein Y; Schmidtke J; Miller K
Int J Oral Maxillofac Surg; 2003 Apr; 32(2):198-200. PubMed ID: 12729782
[TBL] [Abstract][Full Text] [Related]
25. Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.
Huang XL; Isabel de Michelena M; Leon E; Maher TA; McClure R; Milunsky A
Clin Genet; 2007 Nov; 72(5):434-40. PubMed ID: 17894838
[TBL] [Abstract][Full Text] [Related]
26. Pallister-Killian syndrome: a study of 22 British patients.
Blyth M; Maloney V; Beal S; Collinson M; Huang S; Crolla J; Temple IK; Baralle D
J Med Genet; 2015 Jul; 52(7):454-64. PubMed ID: 25888713
[TBL] [Abstract][Full Text] [Related]
27. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.
Leube B; Majewski F; Gebauer J; Royer-Pokora B
Am J Med Genet A; 2003 Dec; 123A(3):296-300. PubMed ID: 14608653
[TBL] [Abstract][Full Text] [Related]
28. Cytogenetic and molecular analysis in trisomy 12p.
Allen TL; Brothman AR; Carey JC; Chance PF
Am J Med Genet; 1996 May; 63(1):250-6. PubMed ID: 8723118
[TBL] [Abstract][Full Text] [Related]
29. Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome.
Raffel LJ; Mohandas T; Rimoin DL
Am J Med Genet; 1986 Aug; 24(4):607-11. PubMed ID: 3740095
[TBL] [Abstract][Full Text] [Related]
30. aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
Theisen A; Rosenfeld JA; Farrell SA; Harris CJ; Wetzel HH; Torchia BA; Bejjani BA; Ballif BC; Shaffer LG
Am J Med Genet A; 2009 May; 149A(5):914-8. PubMed ID: 19353629
[TBL] [Abstract][Full Text] [Related]
31. Fluorescence in situ hybridization of 12p in germ cell tumors using a bacterial artificial chromosome clone 12p probe on paraffin-embedded tissue: clinical test validation.
Wehle D; Yonescu R; Long PP; Gala N; Epstein J; Griffin CA
Cancer Genet Cytogenet; 2008 Jun; 183(2):99-104. PubMed ID: 18503827
[TBL] [Abstract][Full Text] [Related]
32. Partial tetrasomy 12pter-12p12.3 in a girl with Pallister-Killian syndrome: extraordinary finding of an analphoid, inverted duplicated marker.
Dufke A; Walczak C; Liehr T; Starke H; Trifonov V; Rubtsov N; Schöning M; Enders H; Eggermann T
Eur J Hum Genet; 2001 Aug; 9(8):572-6. PubMed ID: 11528501
[TBL] [Abstract][Full Text] [Related]
33. Fluorescence in situ hybridization analysis of chromosome 12 anomalies in semen cells from patients with carcinoma in situ of the testis.
Meng FJ; Zhou Y; Giwercman A; Skakkebaek NE; Geurts van Kessel AD; Suijkerbuijk RF
J Pathol; 1998 Nov; 186(3):235-9. PubMed ID: 10211110
[TBL] [Abstract][Full Text] [Related]
34. Tetrasomy 12p--unusual presentation in CVS.
Dong L; Falk RE; Williams J; Kohan M; Schreck RR
Prenat Diagn; 2003 Feb; 23(2):101-3. PubMed ID: 12575013
[TBL] [Abstract][Full Text] [Related]
35. Pallister-Killian and Fryns syndromes: nosology.
McPherson EW; Ketterer DM; Salsburey DJ
Am J Med Genet; 1993 Aug; 47(2):241-5. PubMed ID: 8213912
[TBL] [Abstract][Full Text] [Related]
36. Interphase fluorescence in situ hybridization analysis of chromosome 12p abnormalities is useful for distinguishing epidermoid cysts of the testis from pure mature teratoma.
Cheng L; Zhang S; MacLennan GT; Poulos CK; Sung MT; Beck SD; Foster RS
Clin Cancer Res; 2006 Oct; 12(19):5668-72. PubMed ID: 17020968
[TBL] [Abstract][Full Text] [Related]
37. Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.
Inage E; Suzuki M; Minowa K; Akimoto N; Hisata K; Shoji H; Okumura A; Shimojima K; Shimizu T; Yamamoto T
Eur J Med Genet; 2010; 53(3):159-61. PubMed ID: 20219705
[TBL] [Abstract][Full Text] [Related]
38. Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome).
Zakowski MF; Wright Y; Ricci A
Am J Med Genet; 1992 Feb; 42(3):323-5. PubMed ID: 1536171
[TBL] [Abstract][Full Text] [Related]
39. Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.
Yeung A; Francis D; Giouzeppos O; Amor DJ
Am J Med Genet A; 2009 Mar; 149A(3):505-9. PubMed ID: 19215037
[TBL] [Abstract][Full Text] [Related]
40. Skeletal anomalies in a patient with the Pallister/Teschler-Nicola/Killian syndrome.
Kawashima H
Am J Med Genet; 1987 Jun; 27(2):285-9. PubMed ID: 3605214
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]