215 related articles for article (PubMed ID: 21194678)
1. SMOC1 is essential for ocular and limb development in humans and mice.
Okada I; Hamanoue H; Terada K; Tohma T; Megarbane A; Chouery E; Abou-Ghoch J; Jalkh N; Cogulu O; Ozkinay F; Horie K; Takeda J; Furuichi T; Ikegawa S; Nishiyama K; Miyatake S; Nishimura A; Mizuguchi T; Niikawa N; Hirahara F; Kaname T; Yoshiura K; Tsurusaki Y; Doi H; Miyake N; Furukawa T; Matsumoto N; Saitsu H
Am J Hum Genet; 2011 Jan; 88(1):30-41. PubMed ID: 21194678
[TBL] [Abstract][Full Text] [Related]
2. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
Abouzeid H; Boisset G; Favez T; Youssef M; Marzouk I; Shakankiry N; Bayoumi N; Descombes P; Agosti C; Munier FL; Schorderet DF
Am J Hum Genet; 2011 Jan; 88(1):92-8. PubMed ID: 21194680
[TBL] [Abstract][Full Text] [Related]
3. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
Rainger J; van Beusekom E; Ramsay JK; McKie L; Al-Gazali L; Pallotta R; Saponari A; Branney P; Fisher M; Morrison H; Bicknell L; Gautier P; Perry P; Sokhi K; Sexton D; Bardakjian TM; Schneider AS; Elcioglu N; Ozkinay F; Koenig R; Mégarbané A; Semerci CN; Khan A; Zafar S; Hennekam R; Sousa SB; Ramos L; Garavelli L; Furga AS; Wischmeijer A; Jackson IJ; Gillessen-Kaesbach G; Brunner HG; Wieczorek D; van Bokhoven H; Fitzpatrick DR
PLoS Genet; 2011 Jul; 7(7):e1002114. PubMed ID: 21750680
[TBL] [Abstract][Full Text] [Related]
4. A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Mancini C; Zonta A; Botta G; Breda Klobus A; Valbonesi S; Pasini B; Giorgio E; Viora E; Brusco A; Brussino A
Eur J Med Genet; 2019 Nov; 62(11):103578. PubMed ID: 30445150
[TBL] [Abstract][Full Text] [Related]
5. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
Kondo Y; Koshimizu E; Megarbane A; Hamanoue H; Okada I; Nishiyama K; Kodera H; Miyatake S; Tsurusaki Y; Nakashima M; Doi H; Miyake N; Saitsu H; Matsumoto N
Am J Med Genet A; 2013 Jul; 161A(7):1543-6. PubMed ID: 23703728
[TBL] [Abstract][Full Text] [Related]
6. Ophthalmo-acromelic syndrome in an infant.
Ürel-Demir G; Taşkıran EZ; Akgün-Doğan Ö; Şimşek-Kiper PÖ; Utine GE
Eur J Med Genet; 2019 Jul; 62(7):103664. PubMed ID: 31067494
[TBL] [Abstract][Full Text] [Related]
7. A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.
Ullah A; Umair M; Ahmad F; Muhammad D; Basit S; Ahmad W
Ophthalmic Genet; 2017; 38(4):335-339. PubMed ID: 28085523
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.
Jamshidi J; Abdollahi S; Ghaedi H; Alehabib E; Tafakhori A; Alinaghi S; Chapi M; Johari AH; Darvish H
Eur J Med Genet; 2017 Nov; 60(11):578-582. PubMed ID: 28807869
[TBL] [Abstract][Full Text] [Related]
9. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Yahyavi M; Abouzeid H; Gawdat G; de Preux AS; Xiao T; Bardakjian T; Schneider A; Choi A; Jorgenson E; Baier H; El Sada M; Schorderet DF; Slavotinek AM
Hum Mol Genet; 2013 Aug; 22(16):3250-8. PubMed ID: 23591992
[TBL] [Abstract][Full Text] [Related]
10. Microphthalmia resulting from MSX2-induced apoptosis in the optic vesicle.
Wu LY; Li M; Hinton DR; Guo L; Jiang S; Wang JT; Zeng A; Xie JB; Snead M; Shuler C; Maxson RE; Liu YH
Invest Ophthalmol Vis Sci; 2003 Jun; 44(6):2404-12. PubMed ID: 12766037
[TBL] [Abstract][Full Text] [Related]
11. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
Ferda Percin E; Ploder LA; Yu JJ; Arici K; Horsford DJ; Rutherford A; Bapat B; Cox DW; Duncan AM; Kalnins VI; Kocak-Altintas A; Sowden JC; Traboulsi E; Sarfarazi M; McInnes RR
Nat Genet; 2000 Aug; 25(4):397-401. PubMed ID: 10932181
[TBL] [Abstract][Full Text] [Related]
12. Development and aging of the eye in mice with inherited optic nerve aplasia: histopathological studies.
Silver J; Puck SM; Albert DM
Exp Eye Res; 1984 Mar; 38(3):257-66. PubMed ID: 6723805
[TBL] [Abstract][Full Text] [Related]
13. A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.
Bessant DA; Khaliq S; Hameed A; Anwar K; Mehdi SQ; Payne AM; Bhattacharya SS
Am J Hum Genet; 1998 May; 62(5):1113-6. PubMed ID: 9545413
[TBL] [Abstract][Full Text] [Related]
14. Secreted modular calcium-binding protein 1 binds and activates thrombin to account for platelet hyperreactivity in diabetes.
Delgado Lagos F; Elgheznawy A; Kyselova A; Meyer Zu Heringdorf D; Ratiu C; Randriamboavonjy V; Mann AW; Fisslthaler B; Siragusa M; Fleming I
Blood; 2021 Mar; 137(12):1641-1651. PubMed ID: 33529332
[TBL] [Abstract][Full Text] [Related]
15. Mutations in ALDH1A3 cause microphthalmia.
Aldahmesh MA; Khan AO; Hijazi H; Alkuraya FS
Clin Genet; 2013 Aug; 84(2):128-31. PubMed ID: 23646827
[TBL] [Abstract][Full Text] [Related]
16. Role of secreted modular calcium-binding protein 1 (SMOC1) in transforming growth factor β signalling and angiogenesis.
Awwad K; Hu J; Shi L; Mangels N; Abdel Malik R; Zippel N; Fisslthaler B; Eble JA; Pfeilschifter J; Popp R; Fleming I
Cardiovasc Res; 2015 May; 106(2):284-94. PubMed ID: 25750188
[TBL] [Abstract][Full Text] [Related]
17. A trans-acting protein effect causes severe eye malformation in the Mp mouse.
Rainger J; Keighren M; Keene DR; Charbonneau NL; Rainger JK; Fisher M; Mella S; Huang JT; Rose L; van't Hof R; Sakai LY; Jackson IJ; Fitzpatrick DR
PLoS Genet; 2013; 9(12):e1003998. PubMed ID: 24348270
[TBL] [Abstract][Full Text] [Related]
18. 14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.
Jones GE; Robertson L; Warman P; Craft EV; Cresswell L; Vasudevan PC
Ophthalmic Genet; 2016 Sep; 37(3):352-3. PubMed ID: 26860946
[No Abstract] [Full Text] [Related]
19. A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A; Melnik O; Fomicheva Y; Skitchenko R; Sergushichev A; Shagimardanova E; Gusev O; Gazizova G; Loevets T; Vershinina T; Kozyrev I; Gordeev M; Vasichkina E; Pervunina T; Kostareva A
BMC Med Genomics; 2020 Nov; 13(1):175. PubMed ID: 33218365
[TBL] [Abstract][Full Text] [Related]
20. Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly.
Schatz O; Langer E; Ben-Arie N
Hum Mol Genet; 2014 Oct; 23(20):5394-401. PubMed ID: 24852374
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
