129 related articles for article (PubMed ID: 32894148)
1. A 15q25.2 microdeletion phenotype for premature ovarian failure in a Chinese girl: a case report and review of literature.
Chen Z; Chen H; Yuan K; Wang C
BMC Med Genomics; 2020 Sep; 13(1):126. PubMed ID: 32894148
[TBL] [Abstract][Full Text] [Related]
2. An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.
Palumbo O; Palumbo P; Palladino T; Stallone R; Miroballo M; Piemontese MR; Zelante L; Carella M
Am J Med Genet A; 2012 Dec; 158A(12):3182-9. PubMed ID: 23166063
[TBL] [Abstract][Full Text] [Related]
3. Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.
Wat MJ; Enciso VB; Wiszniewski W; Resnick T; Bader P; Roeder ER; Freedenberg D; Brown C; Stankiewicz P; Cheung SW; Scott DA
J Med Genet; 2010 Nov; 47(11):777-81. PubMed ID: 20921022
[TBL] [Abstract][Full Text] [Related]
4. Proximal and distal 15q25.2 microdeletions-genotype-phenotype delineation of two neurodevelopmental susceptibility loci.
Doelken SC; Seeger K; Hundsdoerfer P; Weber-Ferro W; Klopocki E; Graul-Neumann L
Am J Med Genet A; 2013 Jan; 161A(1):218-24. PubMed ID: 23239641
[TBL] [Abstract][Full Text] [Related]
5. Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases.
Tšuiko O; Nõukas M; Žilina O; Hensen K; Tapanainen JS; Mägi R; Kals M; Kivistik PA; Haller-Kikkatalo K; Salumets A; Kurg A
Hum Reprod; 2016 Aug; 31(8):1913-25. PubMed ID: 27301361
[TBL] [Abstract][Full Text] [Related]
6. Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure.
McGuire MM; Bowden W; Engel NJ; Ahn HW; Kovanci E; Rajkovic A
Fertil Steril; 2011 Apr; 95(5):1595-600. PubMed ID: 21256485
[TBL] [Abstract][Full Text] [Related]
7. Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
Burgess T; Brown NJ; Stark Z; Bruno DL; Oertel R; Chong B; Calabro V; Kornberg A; Sanderson C; Kelly J; Howell KB; Savarirayan R; Hinds R; Greenway A; Slater HR; White SM
Am J Med Genet A; 2014 Jan; 164A(1):77-86. PubMed ID: 24352913
[TBL] [Abstract][Full Text] [Related]
8. Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.
Hyon C; Mansour-Hendili L; Chantot-Bastaraud S; Donadille B; Kerlan V; Dodé C; Jonard S; Delemer B; Gompel A; Reznik Y; Touraine P; Siffroi JP; Christin-Maitre S
J Clin Endocrinol Metab; 2016 May; 101(5):2099-104. PubMed ID: 27003306
[TBL] [Abstract][Full Text] [Related]
9. An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.
L Ng IS; Chin WH; P Lim EC; Tan EC
Twin Res Hum Genet; 2011 Aug; 14(4):333-9. PubMed ID: 21787116
[TBL] [Abstract][Full Text] [Related]
10. New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome.
Rosenfeld JA; Lacassie Y; El-Khechen D; Escobar LF; Reggin J; Heuer C; Chen E; Jenkins LS; Collins AT; Zinner S; Babcock M; Morrow B; Schultz RA; Torchia BS; Ballif BC; Tsuchiya KD; Shaffer LG
Eur J Med Genet; 2011; 54(1):42-9. PubMed ID: 20951845
[TBL] [Abstract][Full Text] [Related]
11. An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature.
Bertini V; Viola D; Vitti P; Simi P; Valetto A
Gene; 2012 Jul; 503(1):123-5. PubMed ID: 22575723
[TBL] [Abstract][Full Text] [Related]
12. Primary ovarian failure and deletions of the long arm of chromosome 3.
Nguyen T; McDonnell CM; Zacharin MR
J Pediatr Endocrinol Metab; 2005 Oct; 18(10):1013-7. PubMed ID: 16355815
[TBL] [Abstract][Full Text] [Related]
13. Autosomal chromosome microdeletions in three adolescent girls with premature ovarian insufficiency: a case report.
Yuan K; He M; Fang Y; Zhu J; Liang L; Wang C
Turk J Pediatr; 2022; 64(4):729-735. PubMed ID: 36082646
[TBL] [Abstract][Full Text] [Related]
14. CPEB1 deletion is not a common explanation for premature ovarian insufficiency in a Chinese cohort.
Jiao W; Zhao S; Liu R; Guo T; Qin Y
J Ovarian Res; 2020 Apr; 13(1):49. PubMed ID: 32354341
[TBL] [Abstract][Full Text] [Related]
15. Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Rojnueangnit K; Charalsawadi C; Thammachote W; Pradabmuksiri A; Tim-Aroon T; Novelli A; Loddo S; Briuglia S; Concetta CM; Wattanasirichaigoon D; Jinawath N
Mol Genet Genomic Med; 2019 Sep; 7(9):e896. PubMed ID: 31390163
[TBL] [Abstract][Full Text] [Related]
16. Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Novara F; Rinaldi B; Sisodiya SM; Coppola A; Giglio S; Stanzial F; Benedicenti F; Donaldson A; Andrieux J; Stapleton R; Weber A; Reho P; van Ravenswaaij-Arts C; Kerstjens-Frederikse WS; Vermeesch JR; Devriendt K; Bacino CA; Delahaye A; Maas SM; Iolascon A; Zuffardi O
Eur J Hum Genet; 2017 Jun; 25(6):694-701. PubMed ID: 28422132
[TBL] [Abstract][Full Text] [Related]
17. A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.
Almuzzaini B; Alatwi NS; Alsaif S; Al Balwi MA
Mol Genet Genomic Med; 2020 Apr; 8(4):e1135. PubMed ID: 31989799
[TBL] [Abstract][Full Text] [Related]
18. Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.
Kim MK; Seok HH; Kim YS; Chin MU; Sung SR; Lee WS; Shim SH; Yoon TK
Gene; 2014 Jan; 534(1):54-9. PubMed ID: 24148559
[TBL] [Abstract][Full Text] [Related]
19. Clinical characterization of DISP1 haploinsufficiency: A case report.
Jun KR; Hur YJ; Lee JN; Kim HR; Shin JH; Oh SH; Lee JY; Seo EJ
Eur J Med Genet; 2013 Jun; 56(6):309-13. PubMed ID: 23542665
[TBL] [Abstract][Full Text] [Related]
20. Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
Palumbo O; Accadia M; Palumbo P; Leone MP; Scorrano A; Palladino T; Stallone R; Bonaglia MC; Carella M
Eur J Med Genet; 2018 May; 61(5):248-252. PubMed ID: 29274487
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]