Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family (English)
- New search for: Sachdev, Manav
- New search for: Rastogi, Anju
- New search for: Singh, Ankur
- New search for: Kumar, Kamlesh
- New search for: Kapoor, Seema
- New search for: Bansal, Yuvika
- New search for: Goel, Shilpa
- New search for: Sachdev, Manav
- New search for: Rastogi, Anju
- New search for: Singh, Ankur
- New search for: Kumar, Kamlesh
- New search for: Kapoor, Seema
- New search for: Bansal, Yuvika
- New search for: Goel, Shilpa
In:
Ophthalmic Genetics
;
34
, 1-2
;
65-68
;
2013
- Article (Journal) / Electronic Resource
-
Title:Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian family
-
Contributors:Sachdev, Manav ( author ) / Rastogi, Anju ( author ) / Singh, Ankur ( author ) / Kumar, Kamlesh ( author ) / Kapoor, Seema ( author ) / Bansal, Yuvika ( author ) / Goel, Shilpa ( author )
-
Published in:Ophthalmic Genetics ; 34, 1-2 ; 65-68
-
Publisher:
- New search for: Taylor & Francis
-
Publication date:2013-06-01
-
Size:4 pages
-
ISSN:
-
DOI:
-
Type of media:Article (Journal)
-
Type of material:Electronic Resource
-
Language:English
-
Keywords:
-
Source:
Table of contents – Volume 34, Issue 1-2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
-
The Bcl-2/Bcl-XL inhibitor ABT-737 promotes death of retinoblastoma cancer cellsAllaman-Pillet, Nathalie / Oberson, Anne / Munier, Francis / Schorderet, Daniel F. et al. | 2013
- 14
-
LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucomaSharafieh, Roshanak / Child, Anne H. / Khaw, Peng T. / Fleck, Brian / Sarfarazi, Mansoor et al. | 2013
- 21
-
Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)Zhao, Jun-Hong / Jin, Tian-Bo / Liu, Qing-Bo / Chen, Chao / Hu, Hai-Tao et al. | 2013
- 27
-
Human RNA Integrity After Postmortem Retinal Tissue RecoveryMontanini, Luisa / Ferrari, Stefano / Crafa, Pellegrino / Ghirardini, Stella / Ponzin, Diego / Orsoni, Jelka G. / Mora, Paolo et al. | 2013
- 32
-
Confirmation of the association between the TCF4 risk allele and Fuchs endothelial corneal dystrophy in patients from the Midwestern United StatesStamler, John F. / Roos, Ben R. / Wagoner, Michael D. / Goins, Ken M. / Kitzmann, Anna S. / Riley, Janet B. / Stone, Edwin M. / Fingert, John H. et al. | 2013
- 35
-
Novel susceptibility genes associated with diabetic cataract in a Taiwanese populationLin, Hui-Ju / Huang, Yu-Chuen / Lin, Jane-Ming / Liao, Wen-Ling / Wu, Jer-Yuarn / Chen, Chien-Hsiun / Chou, Yi-Chun / Chen, Liuh-An / Lin, Chao-Jen / Tsai, Fuu-Jen et al. | 2013
- 43
-
Absence of an association between lumican promoter variants and high myopia in the Korean populationPark, Shin Hae / Mok, Jeewon / Joo, Choun-Ki et al. | 2013
- 48
-
Role of rs1533428 and rs12994401 in patients with Primary Open Angle Glaucoma in an European populationBachernegg, Alexander / El-Shabrawi, Yosuf / Weger, Martin / Mossböck, Georg et al. | 2013
- 52
-
Choroidal neovascularization in Bardet-Biedl syndromeCharkoudian, Leon D. / Barañano, David E. / Fortun, Jorge / Yan, Jiong / Srivastava, Sunil K. et al. | 2013
- 55
-
Corneal endothelial dysfunction in Pearson syndromeKasbekar, Shivani A. / Gonzalez-Martin, Jose A. / Shafiq, Ayad E. / Chandna, Arvind / Willoughby, Colin E. et al. | 2013
- 58
-
Infantile bilateral glaucoma in a child with ectodermal dysplasiaCallea, Michele / Vinciguerra, Agatino / Willoughby, Colin E. / Deroma, Laura / Clarich, Gabriella et al. | 2013
- 61
-
Duane type I retraction syndrome associated with Wyburn-Mason syndromeVucic, Dragana / Kalezic, Tanja / Kostic, Aleksandar / Stojkovic, Milenko / Risimic, Dijana / Stankovic, Branislav et al. | 2013
- 65
-
Phenotypic overlap between Blepharo-naso-facial syndrome and Nablus mask-like syndrome. Report from the first Indian familySachdev, Manav / Rastogi, Anju / Singh, Ankur / Kumar, Kamlesh / Kapoor, Seema / Bansal, Yuvika / Goel, Shilpa et al. | 2013
- 69
-
Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutationRusso, Andrea / Delcassi, Luisa / Marchina, Eleonora / Semeraro, Francesco et al. | 2013
- 75
-
Abnormality in the external limiting membrane in early Stargardt DiseaseBurke, Tomas R. / Yzer, Suzanne / Zernant, Jana / Smith, R. Theodore / Tsang, Stephen H. / Allikmets, Rando et al. | 2013
- 78
-
Craniosynostosis with Ectopia Lentis and a Homozygous 20-base Deletion in ADAMTSL4Chandra, Aman / Aragon-Martin, Jose Antonio / Sharif, Saba / Parulekar, Manoj / Child, Anne / Arno, Gavin et al. | 2013
- 83
-
Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutationHanna, Nancy / Bouhenni, Rachida / Gupta, Balaji / Abu-Amero, Khaled K. / Wollmann, Robert / Edward, Deepak P. et al. | 2013
- 87
-
Late recurrence of tumor necessitating enucleation in an adult onset retinoblastomaKhetan, Vikas / Mathur, Gaurav / Krishna Kumar, S. / Gopal, Lingam et al. | 2013
- 90
-
Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorderAbu-Amero, Khaled K. / Kondkar, Altaf A. / Salih, Mustafa A. M. / Alorainy, Ibrahim A. / Khan, Arif O. / Oystreck, Darren T. / Bosley, Thomas M. et al. | 2013
- 97
-
A novel translocation t(11;13) (q21;q14.2) in a child with suprasellar primitive neuroectodermal tumor and retinoblastomaHuddleston, Stephen / McNall-Knapp, Rene Y. / Siatkowski, Michael / Odom, Christine / Brennan, Rachel / Wilson, Matthew W. et al. | 2013
- 101
-
Blue cone monochromatism in a female due to skewed X-inactivationFrederiksen, Anja L. / Duno, Morten / Welinder, Lotte G. et al. | 2013
- 105
-
Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutationsCassiman, Catherine / Spileers, Werner / De Baere, Elfride / de Ravel, Thomy / Casteels, Ingele et al. | 2013
- 109
-
Congenital accessory palpebral aperture – An addition to the spectrum of Delleman syndromeManudhane, Aditi / Arora, Ritu / Kapoor, Seema / Rastogi, Anju / Goyal, Jawahar Lal et al. | 2013
- 112
-
The relationship between vascular endothelial growth factor −2578C/A polymorphism and age-related macular degenerationLucotte, Gérard / Change, Nathalie et al. | 2013
- 115
-
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian FamilyFaletra, Flavio / d’Adamo, Adamo Pio / Pensiero, Stefano / Athanasakis, Emmanouil / Catalano, Dario / Bruno, Irene / Gasparini, Paolo et al. | 2013