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Items: 1 to 20 of 70

1.

Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.

Ayub S, Gadji M, Krabchi K, Côté S, Gekas J, Maranda B, Drouin R.

Am J Med Genet A. 2016 Apr;170A(4):896-907. doi: 10.1002/ajmg.a.37428. Epub 2016 Jan 29. Review.

PMID:
26822682
2.

Sonographic detection of central nervous system defects in the first trimester of pregnancy.

Engels AC, Joyeux L, Brantner C, De Keersmaecker B, De Catte L, Baud D, Deprest J, Van Mieghem T.

Prenat Diagn. 2016 Mar;36(3):266-73. doi: 10.1002/pd.4770. Epub 2016 Feb 15. Review.

PMID:
26732542
3.

Molecular Biology of Pediatric Hydrocephalus and Hydrocephalus-related Diseases.

Yamasaki M, Kanemura Y.

Neurol Med Chir (Tokyo). 2015;55(8):640-6. doi: 10.2176/nmc.ra.2015-0075. Epub 2015 Jul 31. Review.

4.

Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature.

Chen CP, Huang MC, Chern SR, Kuo YL, Chen YN, Wu PS, Chen LF, Pan CW, Wang W.

Taiwan J Obstet Gynecol. 2015 Jun;54(3):297-302. doi: 10.1016/j.tjog.2015.04.001. Review.

5.

Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature.

Kehinde FI, Anderson CE, McGowan JE, Jethva RN, Wahab MA, Glick AR, Sterner MR Jr, Pascasio JM, Punnett HH, Liu J.

Am J Med Genet A. 2014 Dec;164A(12):3187-93. doi: 10.1002/ajmg.a.36778. Epub 2014 Sep 24. Review.

PMID:
25257307
6.

Genetic aspects of hypothalamic and pituitary gland development.

McCabe MJ, Dattani MT.

Handb Clin Neurol. 2014;124:3-15. doi: 10.1016/B978-0-444-59602-4.00001-0. Review.

PMID:
25248576
7.

Neural crest development in fetal alcohol syndrome.

Smith SM, Garic A, Flentke GR, Berres ME.

Birth Defects Res C Embryo Today. 2014 Sep;102(3):210-20. doi: 10.1002/bdrc.21078. Epub 2014 Sep 15. Review.

8.

Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.

Savastano CP, Bernardi P, Seuánez HN, Moreira MÂ, Orioli IM.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):300-6. doi: 10.1002/bdra.23216. Epub 2014 Feb 12. Review.

PMID:
24677696
9.

Congenital disorder of true cyclopia with polydactylia: case report and review of the literature.

Deftereou TE, Tsoulopoulos V, Alexiadis G, Papadopoulos E, Chouridou E, Katotomichelakis M, Lambropoulou M.

Clin Exp Obstet Gynecol. 2013;40(3):460-2. Review.

PMID:
24283191
10.

Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities.

Hendriks WJ, Pulido R.

Biochim Biophys Acta. 2013 Oct;1832(10):1673-96. doi: 10.1016/j.bbadis.2013.05.022. Epub 2013 May 23. Review.

11.

Prenatal neurologic anomalies: sonographic diagnosis and treatment.

De Catte L, De Keersmaeker B, Claus F.

Paediatr Drugs. 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. Review.

PMID:
22242843
12.

Cyclopia--literature review and a case report.

Olejek A, Bodzek P, Skutil M, Zamłyński J, Stołtny P.

Ginekol Pol. 2011 Mar;82(3):221-5. Review.

PMID:
21721460
13.

Malformations of ventral induction.

Kanekar S, Shively A, Kaneda H.

Semin Ultrasound CT MR. 2011 Jun;32(3):200-10. doi: 10.1053/j.sult.2011.02.012. Review. No abstract available.

PMID:
21596276
14.

Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma.

Gongal PA, French CR, Waskiewicz AJ.

Biochim Biophys Acta. 2011 Mar;1812(3):390-401. doi: 10.1016/j.bbadis.2010.09.005. Epub 2010 Sep 16. Review.

15.

The cavum septi pellucidi: why is it important?

Winter TC, Kennedy AM, Byrne J, Woodward PJ.

J Ultrasound Med. 2010 Mar;29(3):427-44. Review.

PMID:
20194938
16.

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

Weaver DD, Solomon BD, Akin-Samson K, Kelley RI, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):142-5. doi: 10.1002/ajmg.c.30241. Review.

17.

Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.

Keaton AA, Solomon BD, van Essen AJ, Pfleghaar KM, Slama MA, Martin JA, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):170-5. doi: 10.1002/ajmg.c.30251. Review.

18.

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.

Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):93-101. doi: 10.1002/ajmg.c.30253. Review.

19.

Holoprosencephaly flashcards: A summary for the clinician.

Solomon BD, Pineda-Alvarez DE, Mercier S, Raam MS, Odent S, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):3-7. doi: 10.1002/ajmg.c.30245. Review.

PMID:
20104594
20.

Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II).

Chen CP.

Taiwan J Obstet Gynecol. 2009 Sep;48(3):218-24. doi: 10.1016/S1028-4559(09)60293-X. Review.

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