164 related articles for article (PubMed ID: 30910156)
21. Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus.
Bijlsma EK; Knegt AC; Bilardo CM; Goodman FR
Prenat Diagn; 2005 Jan; 25(1):39-44. PubMed ID: 15662696
[TBL] [Abstract][Full Text] [Related]
22. Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound.
Chen CP; Chang TY; Hung FY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2017 Dec; 56(6):843-846. PubMed ID: 29241932
[TBL] [Abstract][Full Text] [Related]
23. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A; Risolino M; Losa M; Cho MT; Monaghan KG; Schneidman-Duhovny D; Parisotto S; Herkert JC; Stegmann APA; Miller K; Shur N; Chui J; Muller E; DeBrosse S; Szot JO; Chapman G; Pachter NS; Winlaw DS; Mendelsohn BA; Dalton J; Sarafoglou K; Karachunski PI; Lewis JM; Pedro H; Dunwoodie SL; Selleri L; Shieh J
Hum Mol Genet; 2017 Dec; 26(24):4849-4860. PubMed ID: 29036646
[TBL] [Abstract][Full Text] [Related]
24. Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound.
Chen CP; Huang JP; Chen YY; Chern SR; Wu PS; Chen SW; Wang W; Lee CC
Taiwan J Obstet Gynecol; 2019 Nov; 58(6):859-863. PubMed ID: 31759543
[TBL] [Abstract][Full Text] [Related]
25. Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.
Chen CP; Lin CJ; Chern SR; Liu YP; Kuo YL; Chen YN; Wu PS; Town DD; Chen LF; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2014 Dec; 53(4):583-7. PubMed ID: 25510705
[TBL] [Abstract][Full Text] [Related]
26. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.
Chen CP; Chang SD; Wang TH; Wang LK; Tsai JD; Liu YP; Chern SR; Wu PS; Su JW; Chen YT; Wang W
Taiwan J Obstet Gynecol; 2013 Dec; 52(4):551-7. PubMed ID: 24411042
[TBL] [Abstract][Full Text] [Related]
27. Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype.
Beaujard MP; Jouannic JM; Bessières B; Borie C; Martin-Luis I; Fallet-Bianco C; Portnoï MF
Prenat Diagn; 2005 Jun; 25(6):451-5. PubMed ID: 15966060
[TBL] [Abstract][Full Text] [Related]
28. Molecular cytogenetic characterization of Xp22.32→pter deletion and Xq26.3→qter duplication in a male fetus associated with 46,Y,rec(X)dup(Xq) inv(X)(p22.3q26.3), a hypoplastic left heart, short stature, and maternal X chromosome pericentric inversion.
Chen CP; Chen CY; Chern SR; Wu PS; Chen YN; Chen SW; Lee CC; Town DD; Lee MS; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2016 Oct; 55(5):705-711. PubMed ID: 27751420
[TBL] [Abstract][Full Text] [Related]
29. Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Arts P; Garland J; Byrne AB; Hardy TSE; Babic M; Feng J; Wang P; Ha T; King-Smith SL; Schreiber AW; Crawford A; Manton N; Moore L; Barnett CP; Scott HS
Am J Med Genet A; 2020 May; 182(5):1273-1277. PubMed ID: 32141698
[TBL] [Abstract][Full Text] [Related]
30. Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.
Jing XY; Huang LY; Zhen L; Han J; Li DZ
J Obstet Gynaecol; 2019 Apr; 39(3):323-327. PubMed ID: 30634886
[TBL] [Abstract][Full Text] [Related]
31. Detection of mosaic 15q11.1-q11.2 deletion encompassing NBEAP1 and POTEB in a fetus with diffuse lymphangiomatosis.
Chen CP; Wang KG; Huang HK; Peng CR; Chern SR; Wu PS; Chen YN; Chen SW; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2017 Apr; 56(2):230-233. PubMed ID: 28420514
[TBL] [Abstract][Full Text] [Related]
32. Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.
Courtens W; Tjalma W; Messiaen L; Vamos E; Martin JJ; Van Bogaert E; Keersmaekers G; Meulyzer P; Wauters J
Am J Med Genet; 1998 May; 77(3):188-97. PubMed ID: 9605585
[TBL] [Abstract][Full Text] [Related]
33. Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).
Chen CP; Lin SP; Lin CC; Li YC; Chern SR; Chen WM; Lee CC; Hsieh LJ; Wang W
Prenat Diagn; 2005 Feb; 25(2):112-8. PubMed ID: 15712324
[TBL] [Abstract][Full Text] [Related]
34. Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1.
Chen CP; Yip HK; Wang LK; Chern SR; Chen SW; Lai ST; Wu PS; Wang W
Taiwan J Obstet Gynecol; 2017 Jun; 56(3):385-389. PubMed ID: 28600056
[TBL] [Abstract][Full Text] [Related]
35. Prenatal diagnosis of the distal 11q deletion and review of the literature.
Chen CP; Chern SR; Chang TY; Tzen CY; Lee CC; Chen WL; Chen LF; Wang W
Prenat Diagn; 2004 Feb; 24(2):130-6. PubMed ID: 14974122
[TBL] [Abstract][Full Text] [Related]
36. Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements.
Chen CP; Chern SR; Lee CC; Lin CC; Li YC; Hsieh LJ; Chen WL; Wang W
Prenat Diagn; 2006 Feb; 26(2):138-46. PubMed ID: 16470734
[TBL] [Abstract][Full Text] [Related]
37. Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot.
Chen CP; Chen CY; Chern SR; Wu PS; Chen YN; Chen SW; Chen LF; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2016 Apr; 55(2):270-4. PubMed ID: 27125413
[TBL] [Abstract][Full Text] [Related]
38. Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf-Hirschhorn syndrome.
Yang WX; Pan H; Wang ST; Li L; Wu HR; Qi Y
Taiwan J Obstet Gynecol; 2016 Feb; 55(1):104-8. PubMed ID: 26927259
[TBL] [Abstract][Full Text] [Related]
39. Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones.
Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Lai ST; Chuang TY; Yang CW; Chen LF; Wang W
Taiwan J Obstet Gynecol; 2017 Dec; 56(6):821-826. PubMed ID: 29241927
[TBL] [Abstract][Full Text] [Related]
40. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
Chen CP; Chern SR; Lin CC; Wang TH; Li YC; Hsieh LJ; Lee CC; Hua HM; Wang W
Prenat Diagn; 2006 Apr; 26(4):313-20. PubMed ID: 16506269
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
