Search Results - "Doelken, Sandra C."

A GDF5 point mutation strikes twice--causing BDA1 and SYNS2 by Degenkolbe, Elisa, König, Jana, Zimmer, Julia, Walther, Maria, Reißner, Carsten, Nickel, Joachim, Plöger, Frank, Raspopovic, Jelena, Sharpe, James, Dathe, Katarina, Hecht, Jacqueline T, Mundlos, Stefan, Doelken, Sandra C, Seemann, Petra

“…Growth and Differentiation Factor 5 (GDF5) is a secreted growth factor that belongs to the Bone Morphogenetic Protein (BMP) family and plays a pivotal role…”
Get full text

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [version 2; peer review: 3 approved] by Köhler, Sebastian, Doelken, Sandra C, Ruef, Barbara J, Bauer, Sebastian, Washington, Nicole, Westerfield, Monte, Gkoutos, George, Schofield, Paul, Smedley, Damian, Lewis, Suzanna E, Robinson, Peter N, Mungall, Christopher J

“…Phenotype analyses, e.g. investigating metabolic processes, tissue formation, or organism behavior, are an important element of most biological and medical…”
Get full text

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish by Doelken, Sandra C, Köhler, Sebastian, Mungall, Christopher J, Gkoutos, Georgios V, Ruef, Barbara J, Smith, Cynthia, Smedley, Damian, Bauer, Sebastian, Klopocki, Eva, Schofield, Paul N, Westerfield, Monte, Robinson, Peter N, Lewis, Suzanna E

“…Numerous disease syndromes are associated with regions of copy number variation (CNV) in the human genome and, in most cases, the pathogenicity of the CNV is…”
Get full text

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research [version 1; peer review: 3 approved] by Köhler, Sebastian, Doelken, Sandra C, Ruef, Barbara J, Bauer, Sebastian, Washington, Nicole, Westerfield, Monte, Gkoutos, George, Schofield, Paul, Smedley, Damian, Lewis, Suzanna E, Robinson, Peter N, Mungall, Christopher J

“…Phenotype analyses, e.g. investigating metabolic processes, tissue formation, or organism behavior, are an important element of most biological and medical…”
Get full text

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data by Köhler, Sebastian, Doelken, Sandra C, Mungall, Christopher J, Bauer, Sebastian, Firth, Helen V, Bailleul-Forestier, Isabelle, Black, Graeme C M, Brown, Danielle L, Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R, Eppig, Janan T, Jackson, Andrew P, Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A, Jähn, Johanna, Jackson, Laird G, Kelly, Anne M, Ledbetter, David H, Mansour, Sahar, Martin, Christa L, Moss, Celia, Mumford, Andrew, Ouwehand, Willem H, Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H, Sisodiya, Sanjay, Van Vooren, Steven, Wapner, Ronald J, Wilkie, Andrew O M, Wright, Caroline F, Vulto-van Silfhout, Anneke T, de Leeuw, Nicole, de Vries, Bert B A, Washingthon, Nicole L, Smith, Cynthia L, Westerfield, Monte, Schofield, Paul, Ruef, Barbara J, Gkoutos, Georgios V, Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E, Robinson, Peter N

“…The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of…”
Get full text

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance by Zimmer, Julia, Doelken, Sandra C, Horn, Denise, Groppe, Jay C, Shore, Eileen M, Kaplan, Frederick S, Seemann, Petra

“…We identified an amino acid change (p.G92E) in the Bone Morphogenetic Protein antagonist NOGGIN in a 22-month-old boy who presented with a unilateral…”
Get full text

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families by Tayebi, Naeimeh, Jamsheer, Aleksander, Flöttmann, Ricarda, Sowinska-Seidler, Anna, Doelken, Sandra C, Oehl-Jaschkowitz, Barbara, Hülsemann, Wiebke, Habenicht, Rolf, Klopocki, Eva, Mundlos, Stefan, Spielmann, Malte

“…A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been…”
Get full text

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion by Jamsheer, Aleksander, Zemojtel, Tomasz, Kolanczyk, Mateusz, Stricker, Sigmar, Hecht, Jochen, Krawitz, Peter, Doelken, Sandra C, Glazar, Renata, Socha, Magdalena, Mundlos, Stefan

“…Metacarpal 4-5 fusion (MF4; MIM %309630) is a rare congenital malformation of the hand characterised by the partial or complete fusion of the fourth and fifth…”
Get more information

Ontological phenotype standards for neurogenetics by Köhler, Sebastian, Doelken, Sandra C., Rath, Ana, Aymé, Ségolène, Robinson, Peter N.

“…Neurological disorders comprise one of the largest groups of human diseases. Due to the myriad symptoms and the extreme degree of clinical variability…”
Get full text

MouseFinder: Candidate disease genes from mouse phenotype data by Chen, Chao-Kung, Mungall, Christopher J., Gkoutos, Georgios V., Doelken, Sandra C., Köhler, Sebastian, Ruef, Barbara J., Smith, Cynthia, Westerfield, Monte, Robinson, Peter N., Lewis, Suzanna E., Schofield, Paul N., Smedley, Damian

“…Mouse phenotype data represents a valuable resource for the identification of disease‐associated genes, especially where the molecular basis is unknown and…”
Get full text

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion by Klopocki, Eva, Lohan, Silke, Doelken, Sandra C, Stricker, Sigmar, Ockeloen, Charlotte W, Soares Thiele de Aguiar, Renata, Lezirovitz, Karina, Mingroni Netto, Regina Celia, Jamsheer, Aleksander, Shah, Hitesh, Kurth, Ingo, Habenicht, Rolf, Warman, Matthew, Devriendt, Koenraad, Kordass, Ulrike, Hempel, Maja, Rajab, Anna, Mäkitie, Outi, Naveed, Mohammed, Radhakrishna, Uppala, Antonarakis, Stylianos E, Horn, Denise, Mundlos, Stefan

“…Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the…”
Get more information

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management by Heidemann, Simone, Fischer, Christine, Engel, Christoph, Fischer, Barbara, Harder, Lana, Schlegelberger, Brigitte, Niederacher, Dieter, Goecke, Timm O., Doelken, Sandra C., Dikow, Nicola, Jonat, Walter, Morlot, Susanne, Schmutzler, Rita C., Arnold, Norbert K.

“…Double heterozygosity for disease-causing BRCA1 and BRCA2 mutations is a very rare condition in most populations. Here we describe genetic and clinical data of…”
Get full text

Clinical interpretation of CNVs with cross-species phenotype data by Köhler, Sebastian, Schoeneberg, Uwe, Czeschik, Johanna Christina, Doelken, Sandra C, Hehir-Kwa, Jayne Y, Ibn-Salem, Jonas, Mungall, Christopher J, Smedley, Damian, Haendel, Melissa A, Robinson, Peter N

“…Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and…”
Get more information

Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations by Ibrahim, Daniel M, Hansen, Peter, Rödelsperger, Christian, Stiege, Asita C, Doelken, Sandra C, Horn, Denise, Jäger, Marten, Janetzki, Catrin, Krawitz, Peter, Leschik, Gundula, Wagner, Florian, Scheuer, Till, Schmidt-von Kegler, Mareen, Seemann, Petra, Timmermann, Bernd, Robinson, Peter N, Mundlos, Stefan, Hecht, Jochen

“…Gene regulation by transcription factors (TFs) determines developmental programs and cell identity. Consequently, mutations in TFs can lead to dramatic…”
Get full text

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe by Graul-Neumann, Luitgard M, Deichsel, Alexandra, Wille, Ulrike, Kakar, Naseebullah, Koll, Randi, Bassir, Christian, Ahmad, Jamil, Cormier-Daire, Valerie, Mundlos, Stefan, Kubisch, Christian, Borck, Guntram, Klopocki, Eva, Mueller, Thomas D, Doelken, Sandra C, Seemann, Petra

“…Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle…”
Get full text

Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci by Doelken, Sandra C., Seeger, Karl, Hundsdoerfer, Patrick, Weber‐Ferro, Wencke, Klopocki, Eva, Graul‐Neumann, Luitgard

“…Distal 15q25.2 microdeletions have recently been reported as a copy number variation (CNV) locus for neurodevelopmental and neuropsychiatric disorders with…”
Get full text

Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project by Oetting, William S., Robinson, Peter N., Greenblatt, Marc S., Cotton, Richard G., Beck, Tim, Carey, John C., Doelken, Sandra C., Girdea, Marta, Groza, Tudor, Hamilton, Carol M., Hamosh, Ada, Kerner, Berit, MacArthur, Jacqueline A. L., Maglott, Donna R., Mons, Barend, Rehm, Heidi L., Schofield, Paul N., Searle, Beverly A., Smedley, Damian, Smith, Cynthia L., Bernstein, Inge Thomsen, Zankl, Andreas, Zhao, Eric Y.

“…ABSTRACT A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San…”
Get full text

A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2: e1003846 by Degenkolbe, Elisa, König, Jana, Zimmer, Julia, Walther, Maria, Reißner, Carsten, Nickel, Joachim, Plöger, Frank, Raspopovic, Jelena, Sharpe, James, Dathe, Katarina, Hecht, Jacqueline T, Mundlos, Stefan, Doelken, Sandra C, Seemann, Petra

“…Growth and Differentiation Factor 5 (GDF5) is a secreted growth factor that belongs to the Bone Morphogenetic Protein (BMP) family and plays a pivotal role…”
Get full text

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data by Köhler, Sebastian, Doelken, Sandra C., Mungall, Christopher J., Bauer, Sebastian, Firth, Helen V., Bailleul-Forestier, Isabelle, Black, Graeme C. M., Brown, Danielle L., Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R., Eppig, Janan T., Jackson, Andrew P., Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A., Jähn, Johanna, Jackson, Laird G., Kelly, Anne M., Ledbetter, David H., Mansour, Sahar, Martin, Christa L., Moss, Celia, Mumford, Andrew, Ouwehand, Willem H., Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H., Sisodiya, Sanjay, Vooren, Steven Van, Wapner, Ronald J., Wilkie, Andrew O. M., Wright, Caroline F., Vulto-van Silfhout, Anneke T., Leeuw, Nicole de, de Vries, Bert B. A., Washingthon, Nicole L., Smith, Cynthia L., Westerfield, Monte, Schofield, Paul, Ruef, Barbara J., Gkoutos, Georgios V., Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E., Robinson, Peter N.

“…The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and welldefined set of…”
Get full text

No evidence for simian virus 40 DNA sequences in malignant non‐Hodgkin lymphomas by Schüler, Frank, Dölken, Sandra C., Hirt, Carsten, Dölken, Marc T., Mentel, Renate, Gürtler, Lutz G., Dölken, Gottfried

“…DNA sequences coding for simian virus 40 (SV40) large T antigen have been detected at different frequencies in human non‐Hodgkin's lymphomas (NHL) by PCR…”
Get full text