217 related articles for article (PubMed ID: 10584540)
1. [CATCH22 or 22q11 deletion syndrome. An underdiagnosed and misunderstood disease category with a variable clinical picture].
Oskarsdóttir S; Fasth A; Belfrage M; Viggedal G; Persson C; Eriksson BO
Lakartidningen; 1999 Nov; 96(44):4789-93. PubMed ID: 10584540
[TBL] [Abstract][Full Text] [Related]
2. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.
Sergi C; Serpi M; Müller-Navia J; Schnabel PA; Hagl S; Otto HF; Ulmer HE
Pathologica; 1999 Jun; 91(3):166-72. PubMed ID: 10536461
[TBL] [Abstract][Full Text] [Related]
3. Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
Kitsiou-Tzeli S; Kolialexi A; Fryssira H; Galla-Voumvouraki A; Salavoura K; Kanariou M; Tsangaris GT; Kanavakis E; Mavrou A
In Vivo; 2004; 18(5):603-8. PubMed ID: 15523900
[TBL] [Abstract][Full Text] [Related]
4. [Transient neonatal hypocalcemia. Onset Manifestation of the 22q11.2 deletion syndrome].
Pusceddu M; Bertone A; Campra D; Pontoriero D; Guala A
Minerva Pediatr; 2002 Aug; 54(4):343-5. PubMed ID: 12131871
[No Abstract] [Full Text] [Related]
5. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.
Matsuoka R; Takao A; Kimura M; Imamura S; Kondo C; Joh-o K; Ikeda K; Nishibatake M; Ando M; Momma K
Am J Med Genet; 1994 Nov; 53(3):285-9. PubMed ID: 7856665
[TBL] [Abstract][Full Text] [Related]
6. The deletions of 22q11--the Portuguese experience.
Gaspar IM; Lourenço MT; Reis MI; Soares MA; Nogueira G; Ferreira F; Feijóo MJ
Genet Couns; 1999; 10(1):51-7. PubMed ID: 10191429
[TBL] [Abstract][Full Text] [Related]
7. Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations.
Alikaşifoğlu M; Malkoç N; Ceviz N; Ozme S; Uludoğan S; Tunçbilek E
Turk J Pediatr; 2000; 42(3):215-8. PubMed ID: 11105620
[TBL] [Abstract][Full Text] [Related]
8. The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
McDonald-McGinn DM; Kirschner R; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Solot C; Wang P; Jacobs I; Handler S; Knightly C; Heher K; Wilson M; Ming JE; Grace K; Driscoll D; Pasquariello P; Randall P; Larossa D; Emanuel BS; Zackai EH
Genet Couns; 1999; 10(1):11-24. PubMed ID: 10191425
[TBL] [Abstract][Full Text] [Related]
9. Microdeletion 22q11 and oesophageal atresia.
Digilio MC; Marino B; Bagolan P; Giannotti A; Dallapiccola B
J Med Genet; 1999 Feb; 36(2):137-9. PubMed ID: 10051013
[TBL] [Abstract][Full Text] [Related]
10. Clinical correlation of chromosome 22q11.2 fluorescent in situ hybridization analysis and velocardiofacial syndrome.
Oh AK; Workman LA; Wong GB
Cleft Palate Craniofac J; 2007 Jan; 44(1):62-6. PubMed ID: 17214538
[TBL] [Abstract][Full Text] [Related]
11. Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.
Demczuk S; Desmaze C; Aikem M; Prieur M; Ledeist F; Sanson M; Rouleau G; Thomas G; Aurias A
Ann Genet; 1994; 37(2):60-5. PubMed ID: 7985979
[TBL] [Abstract][Full Text] [Related]
12. [DiGeorge syndrome. An underdiagnosed disease category with different clinical features].
Graesdal A; Surén P; Vadstrup S
Tidsskr Nor Laegeforen; 2001 Nov; 121(27):3177-9. PubMed ID: 11876140
[TBL] [Abstract][Full Text] [Related]
13. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome.
Rommel N; Vantrappen G; Swillen A; Devriendt K; Feenstra L; Fryns JP
Genet Couns; 1999; 10(1):71-8. PubMed ID: 10191432
[TBL] [Abstract][Full Text] [Related]
14. Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11.
Marino B; Digilio MC; Toscano A; Giannotti A; Dallapiccola B
Genet Couns; 1999; 10(1):25-33. PubMed ID: 10191426
[TBL] [Abstract][Full Text] [Related]
15. [Study on clinical features and fluorescence in situ hybridization detections of 22q11 microdeletion syndrome].
Qin YF; Yang JB; Xie CH; Shao J; Zhao ZY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):284-7. PubMed ID: 17557238
[TBL] [Abstract][Full Text] [Related]
16. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.
Li M; Zackai EH; Niikawa N; Kaplan P; Driscoll DA
Am J Med Genet; 1996 Oct; 65(2):101-3. PubMed ID: 8911598
[TBL] [Abstract][Full Text] [Related]
17. [Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].
Muñoz S; Garay F; Flores I; Heusser F; Talesnik E; Aracena M; Mellado C; Méndez C; Arnaiz P; Repetto G
Rev Med Chil; 2001 May; 129(5):515-21. PubMed ID: 11464533
[TBL] [Abstract][Full Text] [Related]
18. [Cerebral polymicrogyria and 22q11 deletion syndrome].
Arriola-Pereda G; Verdú-Pérez A; de Castro-De Castro P
Rev Neurol; 2009 Feb 16-28; 48(4):188-90. PubMed ID: 19226486
[TBL] [Abstract][Full Text] [Related]
19. The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence.
Swillen A; Devriendt K; Legius E; Prinzie P; Vogels A; Ghesquière P; Fryns JP
Genet Couns; 1999; 10(1):79-88. PubMed ID: 10191433
[TBL] [Abstract][Full Text] [Related]
20. [Clinical features and molecular diagnosis of three patients with DiGeorge anomaly].
Sun JQ; Wang LS; Qi CH; Ying WJ; Guo XH; Liu DR; Hui XY; Liu F; Cao Y; Luo FH; Wang XC
Zhonghua Er Ke Za Zhi; 2012 Dec; 50(12):944-7. PubMed ID: 23324155
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
