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Your search keyword '"Linda P. Jakobsen"' showing total 2 results
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2 results on '"Linda P. Jakobsen"'

1. 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip

Author

Reinhard Ullmann, Niels Tommerup, Charlotte Karlskov Schjerling, Lars J. Hansen, Rehannah Borup, Hans Eiberg, Merete Bugge, and Linda P. Jakobsen

Subjects
Adult, Male, Genetics, medicine.medical_specialty, Saliva, Cleft Lip, Monozygotic twin, Single-nucleotide polymorphism, Twins, Monozygotic, Biology, Polymorphism, Single Nucleotide, Endocrinology, Internal medicine, medicine, Humans, Female, Congenital disease, Genetics (clinical), Oligonucleotide Array Sequence Analysis, SNP array
Published
2011

2. A novel mutation inIRF6 resulting in VWS–PPS spectrum disorder with renal aplasia

Author

Filipe de Medeiros, Linda P. Jakobsen, Camilla Asklund, Hans Eiberg, Evete Mawlad, Lars Hansen, and Niels Tommerup

Subjects
Male, medicine.medical_specialty, Molecular Sequence Data, Ankyloblepharon, Mutation, Missense, Kidney, Internal medicine, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Van der Woude syndrome, Genetics (clinical), Base Sequence, business.industry, Exons, Syndrome, Aplasia, medicine.disease, Dermatology, Endocrinology, medicine.anatomical_structure, Popliteal pterygium syndrome, Hypospadias, Child, Preschool, Interferon Regulatory Factors, IRF6, business
Abstract

Popliteal pterygium syndrome (PPS) and Van der Woude syndrome (VWS) are caused by mutations in the gene interferon regulatory factor 6 (IRF6). Skeletal, genital malformations and involvement of the skin occur in PPS and orofacial clefting and lip pits occur in both. We report on a patient with unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits, unilateral renal aplasia, and a coronal hypospadias. By sequencing IRF6, we detected a novel missense mutation (Arg339Ile). The other family members were unaffected and had no IRF6 mutations, including the patient's brother who was also born with hypospadias. The patient and his brother were both conceived by in vitro fertilization (IVF). It is discussed whether the renal malformation in the patient is related to the IVF procedure or to the IRF6 mutation. © 2008 Wiley-Liss, Inc.

Published
2008

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