161 related articles for article (PubMed ID: 38528911)
1. A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.
Karamysheva TV; Lebedev IN; Minaycheva LI; Nazarenko LP; Kashevarova AA; Fedotov DA; Skryabin NA; Lopatkina ME; Cheremnykh AD; Fonova EA; Nikitina TV; Sazhenova EA; Skleimova MM; Kolesnikov NA; Drozdov GV; Yakovleva YS; Seitova GN; Orishchenko KE; Rubtsov NB
Front Genet; 2024; 15():1331066. PubMed ID: 38528911
[TBL] [Abstract][Full Text] [Related]
2. Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.
Alqahtani AS; Putoux A; Bonnet Dupeyron MN; Carneiro M; Lion-Francois L; Rossi M; Tevissen H; Schluth Bolard C; Labalme A; Lesca G; Till M; Edery P; Sanlaville D
Mol Genet Genomic Med; 2019 Oct; 7(10):e00939. PubMed ID: 31454185
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis.
Chen CP; Wang LK; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Chen LF; Wang W
Taiwan J Obstet Gynecol; 2017 Dec; 56(6):852-856. PubMed ID: 29241934
[TBL] [Abstract][Full Text] [Related]
5. Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome.
Chen CP; Peng CR; Chern SR; Kuo YL; Wu PS; Town DD; Pan CW; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2014 Dec; 53(4):566-71. PubMed ID: 25510702
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.
Libotte F; Bizzoco D; Gabrielli I; Mesoraca A; Cignini P; Vitale SG; Marilli I; Gulino FA; Rapisarda AM; Giorlandino C
Taiwan J Obstet Gynecol; 2016 Dec; 55(6):863-866. PubMed ID: 28040135
[TBL] [Abstract][Full Text] [Related]
8. Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
Toydemir RM; Panza E; Longhurst MC; South ST; Rope AF
Mol Syndromol; 2020 Jul; 11(3):125-129. PubMed ID: 32903844
[TBL] [Abstract][Full Text] [Related]
9. Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.
Alesi V; Dentici ML; Restaldi F; Orlando V; Liambo MT; Calacci C; Capolino R; Digilio MC; El Hachem M; Novelli A; Diociaiuti A; Dallapiccola B
Am J Med Genet A; 2017 Jul; 173(7):1943-1946. PubMed ID: 28489314
[TBL] [Abstract][Full Text] [Related]
10. Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.
Elsheikh A; Al Shehhi M; Goud TM; Itoo B; Al Harasi S
Oman Med J; 2019 May; 34(3):249-253. PubMed ID: 31110634
[TBL] [Abstract][Full Text] [Related]
11. Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
Izumi K; Conlin LK; Berrodin D; Fincher C; Wilkens A; Haldeman-Englert C; Saitta SC; Zackai EH; Spinner NB; Krantz ID
Am J Med Genet A; 2012 Dec; 158A(12):3033-45. PubMed ID: 23169682
[TBL] [Abstract][Full Text] [Related]
12. Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.
Karaman B; Kayserili H; Ghanbari A; Uyguner ZO; Toksoy G; Altunoglu U; Basaran S
Mol Cytogenet; 2018; 11():45. PubMed ID: 30140312
[TBL] [Abstract][Full Text] [Related]
13. Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics.
Polityko AD; Goncharova E; Shamgina L; Drozdovskaja N; Podleschuk L; Abramchik E; Jaroshevich E; Khurs O; Pisarik I; Pribushenya O; Rumyantseva N; Naumchik I
J Histochem Cytochem; 2005 Mar; 53(3):361-4. PubMed ID: 15750020
[TBL] [Abstract][Full Text] [Related]
14. Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome.
Yakut S; Mihci E; Altiok Clark O; Cetin Z; Keser I; Berker S; Luleci G
Balkan J Med Genet; 2012 Jun; 15(1):61-4. PubMed ID: 24052725
[TBL] [Abstract][Full Text] [Related]
15. Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis.
Hiraiwa A; Matsui K; Nakayama Y; Komatsubara T; Magara S; Kobayashi Y; Hojo M; Kato M; Yamamoto T; Tohyama J
Brain Dev; 2021 Mar; 43(3):448-453. PubMed ID: 33229101
[TBL] [Abstract][Full Text] [Related]
16. Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome?
Lloveras E; Canellas A; Cirigliano V; CatalĂ V; Cerdan C; Plaja A
Fetal Diagn Ther; 2013; 34(3):172-5. PubMed ID: 23485930
[TBL] [Abstract][Full Text] [Related]
17. Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.
Melo JB; Matoso E; Polityko A; Saraiva J; Backx L; Vermeesch JR; Kosyakova N; Ewers E; Liehr T; Carreira IM
Cytogenet Genome Res; 2009; 125(2):109-14. PubMed ID: 19729913
[TBL] [Abstract][Full Text] [Related]
18. Small supernumerary marker chromosomes and their correlation with specific syndromes.
Jafari-Ghahfarokhi H; Moradi-Chaleshtori M; Liehr T; Hashemzadeh-Chaleshtori M; Teimori H; Ghasemi-Dehkordi P
Adv Biomed Res; 2015; 4():140. PubMed ID: 26322288
[TBL] [Abstract][Full Text] [Related]
19. Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: a skin biopsy should remain the diagnostic gold standard.
Hodge JC; Hulshizer RL; Seger P; St Antoine A; Bair J; Kirmani S
Am J Med Genet A; 2012 Mar; 158A(3):669-73. PubMed ID: 22315202
[TBL] [Abstract][Full Text] [Related]
20. [Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array].
Li S; Shen H; Jin Y; Liu X; Song Q; Miao Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):682-5. PubMed ID: 27577223
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]