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Items: 15

1.

NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A; CAUSES study, Lopez-Rangel E, Houcinat N, Barth M, den Hollander N, Hoffer MJV, Weckhuysen S; EuroEPINOMICS-RES-MAE working group, Roovers J, Djemie T, Barca D, Ceulemans B, Craiu D, Lemke JR, Korff C, Mefford HC, Meyers CT, Siegler Z, Hiatt SM, Cooper GM, Bebin EM, Snijders Blok L, Veenstra-Knol HE, Baugh EH, Brilstra EH, Volker-Touw CML, van Binsbergen E, Revah-Politi A, Pereira E, McBrian D, Pacault M, Isidor B, Le Caignec C, Gilbert-Dussardier B, Bilan F, Heinzen EL, Goldstein DB, Stevens SJC, Sands TT.

Ann Neurol. 2018 Nov;84(5):788-795. doi: 10.1002/ana.25350. Epub 2018 Oct 25.

PMID:
30269351
2.

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

Wang P, Carrion P, Qiao Y, Tyson C, Hrynchak M, Calli K, Lopez-Rangel E, Andrieux J, Delobel B, Duban-Bedu B, Thuresson AC, Annerén G, Liu X, Rajcan-Separovic E, Suzanne Lewis ME.

Eur J Med Genet. 2013 Aug;56(8):420-5. doi: 10.1016/j.ejmg.2013.05.006. Epub 2013 May 29. Review.

PMID:
23727450
3.

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

Qiao Y, Tyson C, Hrynchak M, Lopez-Rangel E, Hildebrand J, Martell S, Fawcett C, Kasmara L, Calli K, Harvard C, Liu X, Holden JJ, Lewis SM, Rajcan-Separovic E.

Clin Genet. 2013 Feb;83(2):145-54. doi: 10.1111/j.1399-0004.2012.01860.x. Epub 2012 Apr 9.

PMID:
22369279
4.

Loud and clear evidence for gene silencing by epigenetic mechanisms in autism spectrum and related neurodevelopmental disorders.

Lopez-Rangel E, Lewis ME.

Clin Genet. 2006 Jan;69(1):21-2. No abstract available.

PMID:
16451129
5.

Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome.

Lopez-Rangel E, Malleson PN, Lirenman DS, Roa B, Wiszniewska J, Lewis ME.

Am J Med Genet A. 2005 Dec 15;139(3):239-42. No abstract available.

PMID:
16283670
6.

Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.

Lopez-Rangel E, Van Allen MI.

Birth Defects Res A Clin Mol Teratol. 2005 Nov;73(11):919-23.

PMID:
16265639
7.

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.

Wang MS, Schinzel A, Kotzot D, Balmer D, Casey R, Chodirker BN, Gyftodimou J, Petersen MB, Lopez-Rangel E, Robinson WP.

Am J Med Genet. 1999 Sep 3;86(1):34-43.

PMID:
10440826
8.

Bone dysplasias, nontraditional mechanisms of inheritance and monozygotic twins.

Hall JG, Lopez-Rangel E.

Pediatr Radiol. 1997 May;27(5):422-7. Review.

PMID:
9133355
9.

An introduction to genomic imprinting and parent of origin effects.

Hall JG, Lopez-Rangel E.

Acta Genet Med Gemellol (Roma). 1996;45(1-2):59-61. Review. No abstract available.

PMID:
8872011
10.

Embryologic development and monozygotic twinning.

Hall JG, Lopez-Rangel E.

Acta Genet Med Gemellol (Roma). 1996;45(1-2):53-7. Review. No abstract available.

PMID:
8872010
11.

New mechanisms for genetic disease and nontraditional modes of inheritance.

Langlois S, Lopez-Rangel E, Hall JG.

Adv Pediatr. 1995;42:91-111. Review. No abstract available.

PMID:
8540441
12.

Non-traditional forms of inheritance in skeletal dysplasias.

Hall JG, Lopez-Rangel E.

Pediatr Radiol. 1994;24(6):407-9. Review. No abstract available.

PMID:
7700715
13.

Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype.

Lopez-Rangel E, Dill FJ, Hrynchak MA, Van Allen MI.

Am J Med Genet. 1993 Nov 15;47(7):1068-71.

PMID:
8291525
14.

Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7.

Lopez-Rangel E, Hrynchak M, Friedman JM.

Am J Med Genet. 1993 Sep 1;47(3):326-9.

PMID:
8135275
15.

Williams syndrome in adults.

Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM.

Am J Med Genet. 1992 Dec 1;44(6):720-9.

PMID:
1481839

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