120 related articles for article (PubMed ID: 29168296)
21. Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?
Segel R; Levy-Lahad E; Pasutto F; Picard E; Rauch A; Alterescu G; Schimmel MS
Am J Med Genet A; 2009 Nov; 149A(11):2457-63. PubMed ID: 19839040
[TBL] [Abstract][Full Text] [Related]
22. Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.
Gallardo ME; Rodríguez De Córdoba S; Schneider AS; Dwyer MA; Ayuso C; Bovolenta P
Am J Med Genet A; 2004 Aug; 129A(1):92-4. PubMed ID: 15266624
[No Abstract] [Full Text] [Related]
23. Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.
Zhu X; Dai FR; Wang J; Zhang Y; Tan ZP; Zhang Y
Gene; 2015 Oct; 571(1):142-4. PubMed ID: 26196063
[TBL] [Abstract][Full Text] [Related]
24. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.
Suzumori N; Kaname T; Muramatsu Y; Yanagi K; Kumagai K; Mizuno S; Naritomi K; Saitoh S; Sugiura-Ogasawara M
J Obstet Gynaecol Res; 2013 Nov; 39(11):1545-7. PubMed ID: 23815237
[TBL] [Abstract][Full Text] [Related]
25. Recurrent Fetal Anophthalmia Caused by retinoids acid gene 6 mutations: Correlation between prenatal ultrasonography, magnetic resonance imaging, and pathology.
Chiang CJ; Cheng YC; Tsai YS; Kuo PL; Chang CH
Taiwan J Obstet Gynecol; 2022 Jan; 61(1):180-185. PubMed ID: 35181035
[TBL] [Abstract][Full Text] [Related]
26. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
McVeigh TP; Banka S; Reardon W
Clin Dysmorphol; 2015 Oct; 24(4):135-9. PubMed ID: 26049589
[TBL] [Abstract][Full Text] [Related]
27. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Slavotinek AM; Garcia ST; Chandratillake G; Bardakjian T; Ullah E; Wu D; Umeda K; Lao R; Tang PL; Wan E; Madireddy L; Lyalina S; Mendelsohn BA; Dugan S; Tirch J; Tischler R; Harris J; Clark MJ; Chervitz S; Patwardhan A; West JM; Ursell P; de Alba Campomanes A; Schneider A; Kwok PY; Baranzini S; Chen RO
Clin Genet; 2015 Nov; 88(5):468-73. PubMed ID: 25457163
[TBL] [Abstract][Full Text] [Related]
28. New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A; Vitale G; Caporali C; Parazzini C; Milani D; Recalcati MP; D'Amico L; Signorini S; Balottin U; Bastianello S
BMC Med Genomics; 2018 Sep; 11(1):87. PubMed ID: 30268123
[TBL] [Abstract][Full Text] [Related]
29. A founder variant expands the phenotype of WNT7B-related PDAC syndrome.
AlAbdi L; Rahbeeni Z; Maddirevula S; Helaby R; Abdulwahab F; Khan AO; Riley LG; Alhashem A; Chassaing N; Jamieson RV; Alkuraya FS
Clin Genet; 2024 Jul; 106(1):66-71. PubMed ID: 38417950
[TBL] [Abstract][Full Text] [Related]
30. Homozygous null mutation in ODZ3 causes microphthalmia in humans.
Aldahmesh MA; Mohammed JY; Al-Hazzaa S; Alkuraya FS
Genet Med; 2012 Nov; 14(11):900-4. PubMed ID: 22766609
[TBL] [Abstract][Full Text] [Related]
31. Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.
Ammar THA; Ismail S; Mansour OAA; El-Shafey MM; Doghish AS; Kamal AM; Abdel-Salam GMH
Ophthalmic Genet; 2017; 38(5):498-500. PubMed ID: 28121235
[No Abstract] [Full Text] [Related]
32. Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar.
Faiyaz-Ul-Haque M; Zaidi SH; Al-Mureikhi MS; Peltekova I; Tsui LC; Teebi AS
Clin Genet; 2007 Aug; 72(2):164-6. PubMed ID: 17661825
[No Abstract] [Full Text] [Related]
33. Incomplete penetrance of biallelic ALDH1A3 mutations.
Plaisancié J; Brémond-Gignac D; Demeer B; Gaston V; Verloes A; Fares-Taie L; Gerber S; Rozet JM; Calvas P; Chassaing N
Eur J Med Genet; 2016 Apr; 59(4):215-8. PubMed ID: 26873617
[TBL] [Abstract][Full Text] [Related]
34. Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.
Stephen J; Nampoothiri S; Kuppa S; Yesodharan D; Radhakrishnan N; Gahl WA; Malicdan MCV
Am J Med Genet A; 2018 Dec; 176(12):2930-2933. PubMed ID: 30513139
[No Abstract] [Full Text] [Related]
35. An/micr-ophthalmia, cleft lip/palate, and short limbs: a new syndrome simulating a short rib syndrome.
Kariminejad A; Ghaderi-Sohi S; Kariminejad MH; Lachman R
Fetal Pediatr Pathol; 2012 Oct; 31(5):295-9. PubMed ID: 22432872
[TBL] [Abstract][Full Text] [Related]
36. A family with microphthalmia, anophthalmia and concomitant oligophrenia.
Bianchine JW
Birth Defects Orig Artic Ser; 1971 Mar; 7(3):205-6. PubMed ID: 5173148
[No Abstract] [Full Text] [Related]
37. Mutations in SOX2 cause anophthalmia.
Fantes J; Ragge NK; Lynch SA; McGill NI; Collin JR; Howard-Peebles PN; Hayward C; Vivian AJ; Williamson K; van Heyningen V; FitzPatrick DR
Nat Genet; 2003 Apr; 33(4):461-3. PubMed ID: 12612584
[TBL] [Abstract][Full Text] [Related]
38. Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos.
Tucker S; Jones B; Collin R
Eye (Lond); 1996; 10 ( Pt 3)():310-4. PubMed ID: 8796154
[TBL] [Abstract][Full Text] [Related]
39. Bilateral microphthalmos in monozygous twins.
Rains DE; McCoy DA; Nelson EJ
Ann Ophthalmol; 1972 Aug; 4(8):646-52. PubMed ID: 5052036
[No Abstract] [Full Text] [Related]
40. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Wyatt A; Bakrania P; Bunyan DJ; Osborne RJ; Crolla JA; Salt A; Ayuso C; Newbury-Ecob R; Abou-Rayyah Y; Collin JR; Robinson D; Ragge N
Hum Mutat; 2008 Nov; 29(11):E278-83. PubMed ID: 18781617
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
