223 related articles for article (PubMed ID: 25425496)
1. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.
Goumy C; Laffargue F; Eymard-Pierre E; Kemeny S; Gay-Bellile M; Gouas L; Gallot D; Francannet C; Tchirkov A; Pebrel-Richard C; Vago P
Am J Med Genet A; 2015 Jan; 167A(1):250-3. PubMed ID: 25425496
[TBL] [Abstract][Full Text] [Related]
2. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.
Hendrix NW; Clemens M; Canavan TP; Surti U; Rajkovic A
Fetal Diagn Ther; 2012; 31(2):129-33. PubMed ID: 22178801
[TBL] [Abstract][Full Text] [Related]
3. 17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.
Dixit A; Patel C; Harrison R; Jarvis J; Hulton S; Smith N; Yates K; Silcock L; McMullan DJ; Suri M
Am J Med Genet A; 2012 Sep; 158A(9):2317-21. PubMed ID: 22887843
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.
Chen CP; Wu FT; Pan YT; Wu PS; Wang W
Taiwan J Obstet Gynecol; 2024 Jan; 63(1):77-80. PubMed ID: 38216274
[TBL] [Abstract][Full Text] [Related]
6. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia.
Wat MJ; Veenma D; Hogue J; Holder AM; Yu Z; Wat JJ; Hanchard N; Shchelochkov OA; Fernandes CJ; Johnson A; Lally KP; Slavotinek A; Danhaive O; Schaible T; Cheung SW; Rauen KA; Tonk VS; Tibboel D; de Klein A; Scott DA
J Med Genet; 2011 May; 48(5):299-307. PubMed ID: 21525063
[TBL] [Abstract][Full Text] [Related]
7. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
Unolt M; DiCairano L; Schlechtweg K; Barry J; Howell L; Kasperski S; Nance M; Adzick NS; Zackai EH; McDonald-McGinn DM
Am J Med Genet A; 2017 Jan; 173(1):135-142. PubMed ID: 27682988
[TBL] [Abstract][Full Text] [Related]
8. Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases.
Yap P; McGillivray G; Norris F; Said JM; Kornman L; Stark Z
Prenat Diagn; 2015 Dec; 35(12):1265-7. PubMed ID: 26348998
[No Abstract] [Full Text] [Related]
9. Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.
Sanford EF; Bermudez-Wagner K; Jeng LJ; Rauen KA; Slavotinek AM
Am J Med Genet A; 2011 Nov; 155A(11):2816-20. PubMed ID: 21965155
[TBL] [Abstract][Full Text] [Related]
10. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy.
Hinkes B; Hilgers KF; Bolz HJ; Goppelt-Struebe M; Amann K; Nagl S; Bergmann C; Rascher W; Eckardt KU; Jacobi J
BMC Nephrol; 2012 May; 13():27. PubMed ID: 22583611
[TBL] [Abstract][Full Text] [Related]
11. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.
Bernardini L; Gimelli S; Gervasini C; Carella M; Baban A; Frontino G; Barbano G; Divizia MT; Fedele L; Novelli A; Béna F; Lalatta F; Miozzo M; Dallapiccola B
Orphanet J Rare Dis; 2009 Nov; 4():25. PubMed ID: 19889212
[TBL] [Abstract][Full Text] [Related]
12. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
Nagamani SC; Erez A; Shen J; Li C; Roeder E; Cox S; Karaviti L; Pearson M; Kang SH; Sahoo T; Lalani SR; Stankiewicz P; Sutton VR; Cheung SW
Eur J Hum Genet; 2010 Mar; 18(3):278-84. PubMed ID: 19844256
[TBL] [Abstract][Full Text] [Related]
13. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities].
Jiang YL; Qi QW; Zhou XY; Geng FF; Bai JJ; Hao N; Liu JT
Zhonghua Fu Chan Ke Za Zhi; 2017 Oct; 52(10):662-668. PubMed ID: 29060963
[No Abstract] [Full Text] [Related]
14. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Rasmussen M; Vestergaard EM; Graakjaer J; Petkov Y; Bache I; Fagerberg C; Kibaek M; Svaneby D; Petersen OB; Brasch-Andersen C; Sunde L
Am J Med Genet A; 2016 Nov; 170(11):2934-2942. PubMed ID: 27409573
[TBL] [Abstract][Full Text] [Related]
15. Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome.
Quintero-Rivera F; Woo JS; Bomberg EM; Wallace WD; Peredo J; Dipple KM
Am J Med Genet A; 2014 Dec; 164A(12):3076-82. PubMed ID: 25256560
[TBL] [Abstract][Full Text] [Related]
16. Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series.
Zhou CX; Zhu XY; Zhu YJ; Gu LL; He LL; Liu W; Yang Y; Wu X; Duan HL; Ru T; Li J
Taiwan J Obstet Gynecol; 2021 Mar; 60(2):232-237. PubMed ID: 33678321
[TBL] [Abstract][Full Text] [Related]
17. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome.
Laffargue F; Bourthoumieu S; Llanas B; Baudouin V; Lahoche A; Morin D; Bessenay L; De Parscau L; Cloarec S; Delrue MA; Taupiac E; Dizier E; Laroche C; Bahans C; Yardin C; Lacombe D; Guigonis V
Arch Dis Child; 2015 Mar; 100(3):259-64. PubMed ID: 25324567
[TBL] [Abstract][Full Text] [Related]
18. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
Au PY; Argiropoulos B; Parboosingh JS; Micheil Innes A
Am J Med Genet A; 2014 Feb; 164A(2):441-8. PubMed ID: 24357076
[TBL] [Abstract][Full Text] [Related]
19. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
Mefford HC; Clauin S; Sharp AJ; Moller RS; Ullmann R; Kapur R; Pinkel D; Cooper GM; Ventura M; Ropers HH; Tommerup N; Eichler EE; Bellanne-Chantelot C
Am J Hum Genet; 2007 Nov; 81(5):1057-69. PubMed ID: 17924346
[TBL] [Abstract][Full Text] [Related]
20. Prenatal ultrasound features and genetic analysis for 17q12 microdeletion syndrome.
Zhang Z; Pan L; Chen K; Tan R
Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2021 Dec; 46(12):1370-1374. PubMed ID: 35232906
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]