MeSH Review:
Blepharophimosis
- Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome? de Die-Smulders, C.E., Droog, R.P., van Dijk, M., Fryns, J.P. J. Med. Genet. (1993)
- Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion. Davis, C.J., Davison, R.M., Payne, N.N., Rodeck, C.H., Conway, G.S. Hum. Reprod. (2000)
- "Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3). Röthlisberger, B., Kotzot, D., Gnehm, H.E., Schinzel, A. Am. J. Med. Genet. (1999)
- MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Happle, R., Daniëls, O., Koopman, R.J. Am. J. Med. Genet. (1993)
- Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. Kennedy, S.J., Teebi, A.S. Am. J. Med. Genet. A (2004)
- A Japanese patient with the Dubowitz syndrome. Kondo, I., Takeda, K., Kuwajima, K., Hirano, T. Clin. Genet. (1987)
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S., Ristaldi, M.S., Marzella, R., Rocchi, M., Nicolino, M., Lienhardt-Roussie, A., Nivelon, A., Verloes, A., Schlessinger, D., Gasparini, P., Bonneau, D., Cao, A., Pilia, G. Nat. Genet. (2001)
- FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. De Baere, E., Beysen, D., Oley, C., Lorenz, B., Cocquet, J., De Sutter, P., Devriendt, K., Dixon, M., Fellous, M., Fryns, J.P., Garza, A., Jonsrud, C., Koivisto, P.A., Krause, A., Leroy, B.P., Meire, F., Plomp, A., Van Maldergem, L., De Paepe, A., Veitia, R., Messiaen, L. Am. J. Hum. Genet. (2003)
- A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse. Semina, E.V., Reiter, R.S., Murray, J.C. Hum. Mol. Genet. (1998)
- Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Lawson, C.T., Toomes, C., Fryer, A., Carette, M.J., Taylor, G.M., Fukushima, Y., Dixon, M.J. Hum. Mol. Genet. (1995)
- Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)). Wolstenholme, J., Brown, J., Masters, K.G., Wright, C., English, C.J. J. Med. Genet. (1994)
- A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. Raile, K., Stobbe, H., Tröbs, R.B., Kiess, W., Pfäffle, R. Eur. J. Endocrinol. (2005)
- Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality. Matsuoka, Y., Shibuya, Y. Am. J. Ophthalmol. (1997)
- Treatment of congenital forms of telecanthus with custom-designed titanium medial canthal tendon screws. Mauriello, J.A., Caputo, A.R. Ophthalmic plastic and reconstructive surgery. (1994)
- A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Kosaki, K., Ogata, T., Kosaki, R., Sato, S., Matsuo, N. Ophthalmic Genet. (2002)
- A 11.7-kb deletion triggers intersexuality and polledness in goats. Pailhoux, E., Vigier, B., Chaffaux, S., Servel, N., Taourit, S., Furet, J.P., Fellous, M., Grosclaude, F., Cribiu, E.P., Cotinot, C., Vaiman, D. Nat. Genet. (2001)
- Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). Praphanphoj, V., Goodman, B.K., Thomas, G.H., Niel, K.M., Toomes, C., Dixon, M.J., Geraghty, M.T. Genomics (2000)
- Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype. Alvarado, M., Bocian, M., Walker, A.P. Am. J. Med. Genet. (1987)
- Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? Titomanlio, L., Bennaceur, S., Bremond-Gignac, D., Baumann, C., Dupuy, O., Verloes, A. Am. J. Med. Genet. A (2005)
- Pisrt1, a gene implicated in XX sex reversal, is expressed in gonads of both sexes during mouse development. Loffler, K.A., Combes, A.N., Wilhelm, D., Beverdam, A., Bowles, J., Koopman, P. Mol. Genet. Metab. (2005)
- Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. Bisceglia, L., d'Ambrosio, L., Piemontese, M.R., Carella, M., Amati, P., Bonneau, D., Pilia, G., Gasparini, P., Zelante, L. Mol. Cell. Probes (1998)
- Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. Wechsler, S.B., Lehoczky, J.A., Hall, J.G., Innis, J.W. Clin. Dysmorphol. (2004)
- Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? Ishikiriyama, S., Goto, M. Am. J. Med. Genet. (1993)
- Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype? Enns, G.M., Roeder, E., Chan, R.T., Ali-Khan Catts, Z., Cox, V.A., Golabi, M. Am. J. Med. Genet. (1999)