Macroscopic Analysis of Fetus Having Arhinencephaly, Synophthalmia andHoloprosencephaly
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C. Reyes | D. Gentien | H. Poaty | J. Silou
[1] A. G. Shakkoury,et al. Cyclopia: A Rare Condition with Unusual Presentation – A Case Report , 2015, Clinical medicine insights. Pediatrics.
[2] K. R. Srinivasan,et al. True cyclopia-very rare anomaly. , 2014, Journal of clinical and diagnostic research : JCDR.
[3] K. Sulik,et al. The Teratogenic Effects of Prenatal Ethanol Exposure Are Exacerbated by Sonic Hedgehog or Gli2 Haploinsufficiency in the Mouse , 2014, PloS one.
[4] S. Abakka,et al. Alobar holoprosencephaly secondary to CMV infection , 2014, The Pan African medical journal.
[5] S. Bianca,et al. Molecular analysis of holoprosencephaly in South America , 2013, Genetics and molecular biology.
[6] C. Vulpoi,et al. Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata , 2013, Balkan journal of medical genetics : BJMG.
[7] E. Allender,et al. Amniotic fluid and serum biomarkers from women with neural tube defect-affected pregnancies: a case study for myelomeningocele and anencephaly: clinical article. , 2013, Journal of neurosurgery. Pediatrics.
[8] Jianhua Wu,et al. Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004–2011 , 2013, American journal of medical genetics. Part A.
[9] Chih-ping Chen,et al. Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes. , 2013, Gene.
[10] D. Amadou,et al. [Holoprosencephaly alobar amid polymalformative syndrome: contribution of imaging in a case report]. , 2013 .
[11] M. Muenke,et al. Cyclopia (synophthalmia) in Smith–Lemli–Opitz syndrome: First reported case and consideration of mechanism , 2010, American journal of medical genetics. Part C, Seminars in medical genetics.
[12] F. Denoyelle,et al. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients , 2007, Clinical dysmorphology.
[13] E. Cosmi,et al. Alobar holoprosencephaly, mobile proboscis and trisomy 13 in a fetus with maternal gestational diabetes mellitus: a 2D ultrasound diagnosis and review of the literature , 2007, Archives of Gynecology and Obstetrics.
[14] S. Odent,et al. Étude génétique de l‘holoprosencéphalie , 2003 .
[15] L. Pasquier,et al. [Genetic study of holoprosencephaly]. , 2003, Annales de biologie clinique.
[16] Carey Jc,et al. TORCH Infections. Toxoplasmosis, Other (syphilis, varicella-zoster, parvovirus B19), Rubella, Cytomegalovirus (CMV), and Herpes infections. , 2002 .
[17] A. Munnich,et al. Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. , 1999, Human molecular genetics.
[18] N. Philip,et al. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. , 1991, Journal of medical genetics.
[19] E. Zackai,et al. Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature. , 1988, American journal of medical genetics.
[20] D. Carles,et al. Cyclopia-otocephaly association: a new case of the most severe variant of agnathia-holoprosencephaly complex. , 1987, Journal of craniofacial genetics and developmental biology.
[21] Howard Ro. Chromosomal abnormalities associated with cyclopia and synophthalmia. , 1977 .
[22] R. O. Howard. Chromosomal abnormalities associated with cyclopia and synophthalmia. , 1977, Transactions of the American Ophthalmological Society.
[23] W. Demyer,et al. THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY). , 1964, Pediatrics.