Search Results - "KJAER, Klaus W"

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression by Eiberg, Hans, Troelsen, Jesper, Nielsen, Mette, Mikkelsen, Annemette, Mengel-From, Jonas, Kjaer, Klaus W., Hansen, Lars

“…The human eye color is a quantitative trait displaying multifactorial inheritance. Several studies have shown that the OCA2 locus is the major contributor to…”
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Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2 by Dathe, Katarina, Kjaer, Klaus W., Brehm, Anja, Meinecke, Peter, Nürnberg, Peter, Neto, Jordao C., Brunoni, Decio, Tommerup, Nils, Ott, Claus E., Klopocki, Eva, Seemann, Petra, Mundlos, Stefan

“…Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been…”
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Mutation of the Planar Cell Polarity Gene VANGL1 in Adolescent Idiopathic Scoliosis by Andersen, Malene R., Farooq, Muhammad, Koefoed, Karen, Kjaer, Klaus W., Simony, Ane, Christensen, Søren T., Larsen, Lars A.

“…STUDY DESIGN.Mutation analysis of a candidate disease gene in a cohort of patients with moderate to severe Adolescent idiopathic scoliosis (AIS). OBJECTIVE.To…”
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Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2 by Seemann, Petra, Schwappacher, Raphaela, Kjaer, Klaus W, Krakow, Deborah, Lehmann, Katarina, Dawson, Katherine, Stricker, Sigmar, Pohl, Jens, Plöger, Frank, Staub, Eike, Nickel, Joachim, Sebald, Walter, Knaus, Petra, Mundlos, Stefan

“…Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause brachydactyly type A2 (L441P) and…”
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Brachydactyly type A2 associated with a defect in proGDF5 processing by Plöger, Frank, Seemann, Petra, Schmidt-von Kegler, Mareen, Lehmann, Katarina, Seidel, Jörg, Kjaer, Klaus W., Pohl, Jens, Mundlos, Stefan

“…We investigated a family with a brachydactyly type A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation…”
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Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS by FAROOQ, Muhammad, TROELSEN, Jesper T, TOMMERUP, Niels, SHAHID MAHMOOD BAIG, KJAER, Klaus W, BOYD, Mette, EIBERG, Hans, HANSEN, Lars, MUHAMMAD SAJID HUSSAIN, SHOAIB UR REHMAN, AZHAR, Aysha, ALI, Amjad, SYEDA MARRIAM BAKHTIAR

“…A cis-regulatory sequence also known as zone of polarizing activity (ZPA) regulatory sequence (ZRS) located in intron 5 of LMBR1 is essential for expression of…”
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Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1 by Farooq, Muhammad, Baig, Shahid, Tommerup, Niels, Kjaer, Klaus W.

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A novel subtype of distal symphalangism affecting only the 4th finger by Kjaer, Klaus W., Tiner, Mehmet, Cingoz, Sultan, Karatosun, Vasfi, Tommerup, Niels, Mundlos, Stefan, Gunal, Izge

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Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia by Kjaer, Klaus W., Keeling, Jean W., Opitz, John M., Gilbert-Barness, Enid, Hartling, Ulla, Hansen, Birgit Fischer, Kjær, Inger

“…The development of the iliac bones and lower limbs are parallel processes depending on the normal ontogeny of the caudal blastema [O'Rahilly and Müller, 1989;…”
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Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis by Hellemans, Jan, Debeer, Philippe, Wright, Michael, Janecke, Andreas, Kjaer, Klaus W., Verdonk, Peter C.M., Savarirayan, Ravi, Basel, Lina, Moss, Celia, Roth, Johannes, David, Albert, De Paepe, Anne, Coucke, Paul, Mortier, Geert R.

“…To further explore the allelic heterogeneity within the group of LEMD3‐related disorders, we have screened a larger series of patients including 5 probands…”
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Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair by Kjaer, Klaus W., Hansen, Lars, Eiberg, Hans, Leicht, Pernille, Opitz, John M., Tommerup, Niels

“…Oculo–dento–digital dysplasia (ODDD) [OMIM 164200] is a rare autosomal dominant pleiotropic disorder comprising ocular, craniofacial, and digital anomalies,…”
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Compound heterozygous ASPM mutations in Pakistani MCPH families by Muhammad, Farooq, Mahmood Baig, Shahid, Hansen, Lars, Sajid Hussain, Muhammad, Anjum Inayat, Iram, Aslam, Muhammad, Anver Qureshi, Javed, Toilat, Muhammad, Kirst, Elisabeth, Wajid, Muhammad, Nürnberg, Peter, Eiberg, Hans, Tommerup, Niels, Kjaer, Klaus W.

“…Autosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference (≤4 SD) and mental retardation without any other neurological…”
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A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family by Sanggaard, Kirsten M., Kjaer, Klaus W., Eiberg, Hans, Nürnberg, Gudrun, Nürnberg, Peter, Hoffman, Katrin, Jensen, Hanne, Sørum, Charlotte, Rendtorff, Nanna D., Tranebjærg, Lisbeth

“…Autosomal dominant inheritance is described in about 20% of all nonsyndromic hearing loss with currently 54 distinct loci (DFNA1‐54), and >20 different genes…”
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A novel subtype of distal symphalangism affecting only the 4th finger by Kjaer, Klaus W., Tiner, Mehmet, Cingoz, Sultan, Karatosun, Vasfi, Tommerup, Niels, Mundlos, Stefan, Gunal, Izge

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Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene by RINNE, Tuula, SPADONI, Emanuela, BRUNNER, Han G, PENTTINEN, Maila, VAN BOKHOVEN, Hans, KJAER, Klaus W, DANESINO, Cesare, LARIZZA, Daniela, KOCK, Marianne, HUOPONEN, Kirsi, SAVONTAUS, Marja-Liisa, AALTONEN, Markku, DUIJF, Pascal

“…The ADULT syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth, OMIM 103285) is a rare ectodermal dysplasia associated with limb malformations and caused by…”
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Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family by Jakobsen, Linda P., Ullmann, Reinhard, Kjaer, Klaus W., Knudsen, Mary A., Tommerup, Niels, Eiberg, Hans

“…Cleft lip and/or palate (CL/P) is a common congenital malformation with a complex etiology, as many genes and environmental factors have been shown to play a…”
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A 72-year-old Danish puzzle resolved-comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions by Kjaer, Klaus W., Hansen, Lars, Eiberg, Hans, Utkus, Algirdas, Skovgaard, Lene T., Leicht, Pernille, Opitz, John M., Tommerup, Niels

“…A phenotype–genotype correlation was previously described for carriers of different sized of polyalanine expansions in HOXD13. We report on a detailed…”
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A cryptic unbalanced translocation resulting in del 13q and dup 15q by Tészás, Alexandra, Møller, Rikke S., Kellermayer, Richard, Czakó, Márta, Kjaer, Klaus W., Ullmann, Reinhard, Melegh, Béla, Tommerup, Niels, Kosztolányi, György

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Limb anomalies: Developmental and evolutionary aspects by Gurrieri, Fiorella, Kjaer, Klaus W., Sangiorgi, Eugenio, Neri, Giovanni

“…In this review we describe the developmental mechanisms involved in the making of a limb, by focusing on the nature and types of interactions of the molecules…”
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Immunohistochemical expression of p63 in human prenatal tooth primordia by Kock, Marianne, Nolting, Dorrit, Kjaer, Klaus W, Hansen, Birgit Fischer, Kjaer, Inger

“…The aim of this study was to investigate the expression of the p63 gene in normal human tooth buds at different gestational stages. This is the first detailed…”
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