348 related articles for article (PubMed ID: 22876577)
1. Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.
Chen CP; Lin SP; Chen MR; Su JW; Chern SR; Chen YJ; Lee MS; Wang W
Genet Couns; 2012; 23(2):195-200. PubMed ID: 22876577
[TBL] [Abstract][Full Text] [Related]
2. A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).
Akbas E; Polat S; Karakas-Celik S; Altintas ZM; Yildirim M; Yilgor E
Genet Couns; 2011; 22(4):417-23. PubMed ID: 22303803
[TBL] [Abstract][Full Text] [Related]
3. De novo deletion of chromosome 9 (9p-) in a child with multiple congenital anomalies and psychomotor retardation.
Murthy DS; Murthy SK; Banker GJ; Patel AJ
Indian Pediatr; 1991 May; 28(5):546-9. PubMed ID: 1684352
[No Abstract] [Full Text] [Related]
4. A patient with 9q subtelomeric deletion syndrome with additional findings.
Tug E; Cavdarli B; Karaoguz MY; Percin FE
Genet Couns; 2012; 23(4):465-71. PubMed ID: 23431745
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic variability in Patau syndrome.
Caba L; Rusu C; Butnariu L; Panzaru M; Braha E; Volosciuc M; Popescu R; Gramescu M; Bujoran C; Martiniuc V; Covic M; Gorduza EV
Rev Med Chir Soc Med Nat Iasi; 2013; 117(2):321-7. PubMed ID: 24340511
[TBL] [Abstract][Full Text] [Related]
6. Two cases of 9p deletion syndrome and a case of partial trisomy 8 and partial monosomy 9p.
Okten G; Sezer O; Günes S; Küçüködük S; Oğur G
Genet Couns; 2009; 20(4):341-7. PubMed ID: 20162869
[TBL] [Abstract][Full Text] [Related]
7. New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
Ciaccio C; Scuvera G; Tucci A; Gentilin B; Baccarin M; Marchisio P; Avignone S; Milani D
Cytogenet Genome Res; 2018; 156(3):127-133. PubMed ID: 30448833
[TBL] [Abstract][Full Text] [Related]
8. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.
Lurie IW; Supovitz KR; Rosenblum-Vos LS; Wulfsberg EA
Genet Couns; 1994; 5(1):11-4. PubMed ID: 8031530
[TBL] [Abstract][Full Text] [Related]
9. TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.
Atik T; Karaca E; Ozkinay E; Cogulu O
Genet Couns; 2015; 26(4):431-5. PubMed ID: 26852514
[TBL] [Abstract][Full Text] [Related]
10. Developmental glaucoma with chromosomal abnormalities of 9p deletion and 13q duplication.
Sakata R; Usui T; Mimaki M; Araie M
Arch Ophthalmol; 2008 Mar; 126(3):431-2. PubMed ID: 18332331
[No Abstract] [Full Text] [Related]
11. Child with velocardiofacial syndrome and del (4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype.
Tsai CH; Van Dyke DL; Feldman GL
Am J Med Genet; 1999 Feb; 82(4):336-9. PubMed ID: 10051168
[TBL] [Abstract][Full Text] [Related]
12. Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
Tsoutsou E; Tzetis M; Giannikou K; Syrmou A; Oikonomakis V; Kosma K; Kanioura A; Kanavakis E; Fryssira H
Eur J Paediatr Neurol; 2013 May; 17(3):316-20. PubMed ID: 23352671
[TBL] [Abstract][Full Text] [Related]
13. Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred.
Zhao H; Tian Y; Breedveld G; Huang S; Zou Y; Y J; Chai J; Li H; Li M; Oostra BA; Lo WH; Heutink P
Eur J Hum Genet; 2002 Mar; 10(3):162-6. PubMed ID: 11973619
[TBL] [Abstract][Full Text] [Related]
14. A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region.
Yang YF; Ai Q; Huang C; Chen JL; Wang J; Xie L; Zhang WZ; Yang JF; Tan ZP
Gene; 2013 Oct; 528(1):51-4. PubMed ID: 23639964
[TBL] [Abstract][Full Text] [Related]
15. Ring chromosome 9 in a girl with developmental delay and dysmorphic features: case report and review of the literature.
la Cour Sibbesen E; Jespersgaard C; Alosi D; Bisgaard AM; Tümer Z
Am J Med Genet A; 2013 Jun; 161A(6):1447-52. PubMed ID: 23633410
[TBL] [Abstract][Full Text] [Related]
16. Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.
Recalcati MP; Bellini M; Norsa L; Ballarati L; Caselli R; Russo S; Larizza L; Giardino D
Gene; 2012 Jul; 502(1):40-5. PubMed ID: 22537675
[TBL] [Abstract][Full Text] [Related]
17. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
Bremer A; Schoumans J; Nordenskjöld M; Anderlid BM; Giacobini M
Eur J Med Genet; 2009; 52(5):358-62. PubMed ID: 19576304
[TBL] [Abstract][Full Text] [Related]
18. Infant with del(3) (p25-pter): karyotype-phenotype correlation and review of previously reported cases.
Nienhaus H; Mau U; Zang KD
Am J Med Genet; 1992 Nov; 44(5):573-5. PubMed ID: 1481811
[TBL] [Abstract][Full Text] [Related]
19. Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion.
Huang C; Yang YF; Yin N; Chen JL; Wang J; Zhang H; Tan ZP
Gene; 2012 May; 498(2):308-10. PubMed ID: 22366306
[TBL] [Abstract][Full Text] [Related]
20. A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.
Seidel J; Heller A; Senger G; Starke H; Chudoba I; Kelbova C; Tönnies H; Neitzel H; Haase C; Beensen V; Zintl F; Claussen U; Liehr T
Eur J Pediatr; 2003 Sep; 162(9):582-8. PubMed ID: 12819962
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]