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Items: 12


Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, Wall SA, Rita Passos-Bueno M, Brunner HG, Mathijssen IM, Wilkie AO.

Hum Mol Genet. 2013 Apr 15;22(8):1654-62. doi: 10.1093/hmg/ddt015. Epub 2013 Jan 17.


Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E.

Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373.


Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E.

PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. Erratum in: PLoS Genet. 2009 Apr;5(4). doi: 10.1371/annotation/314060d5-06da-46e0-b9e4-57194e8ece3a.


Association of UCP1 genetic polymorphisms with blood pressure among Korean female subjects.

Cha MH, Kang BK, Suh D, Kim KS, Yang Y, Yoon Y.

J Korean Med Sci. 2008 Oct;23(5):776-80. doi: 10.3346/jkms.2008.23.5.776.


Glaucoma genetics.

Challa P.

Int Ophthalmol Clin. 2008 Fall;48(4):73-94. doi: 10.1097/IIO.0b013e318187e71a. Review. No abstract available.


Inheritance patterns of transcript levels in F1 hybrid mice.

Cui X, Affourtit J, Shockley KR, Woo Y, Churchill GA.

Genetics. 2006 Oct;174(2):627-37. Epub 2006 Aug 3.


Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P.

Am J Hum Genet. 2004 Jun;74(6):1209-15. Epub 2004 Apr 29.


Imprinting in Albright's hereditary osteodystrophy.

Davies SJ, Hughes HE.

J Med Genet. 1993 Feb;30(2):101-3. Review.


The molecular basis of genetic dominance.

Wilkie AO.

J Med Genet. 1994 Feb;31(2):89-98. Review.


A pedigree possible evidence for the metabolic interference hypothesis.

Rollnick B, Day D, Tissot R, Kaye C.

Am J Hum Genet. 1981 Sep;33(5):823-6. No abstract available.


Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity.

Farfel Z, Brothers VM, Brickman AS, Conte F, Neer R, Bourne HR.

Proc Natl Acad Sci U S A. 1981 May;78(5):3098-102.


Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

Beggs AH, Neumann PE, Arahata K, Arikawa E, Nonaka I, Anderson MS, Kunkel LM.

Proc Natl Acad Sci U S A. 1992 Jan 15;89(2):623-7.

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