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1. Full Text Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
by Carvajal-Vergara, Xonia and Sevilla, Ana and Dsouza, Sunita L and Ang, Yen-Sin and Schaniel, Christoph and Lee, Dung-Fang and Yang, Lei and Kaplan, Aaron D and Adler, Eric D and Rozov, Roye and Ge, Yongchao and Cohen, Ninette and Edelmann, Lisa J and Chang, Betty and Waghray, Avinash and Su, Jie and Pardo, Sherly and Lichtenbelt, Klaske D and Tartaglia, Marco and Gelb, Bruce D and Lemischka, Ihor R
Nature, ISSN 0028-0836, 06/2010, Volume 465, Issue 7299, pp. 808 - 812
The generation of reprogrammed induced pluripotent stem cells (iPSCs) from patients with defined genetic disorders holds the promise of increased understanding... 
SOMATIC PTPN11 MUTATIONS | SHP2 MUTATIONS | HUMAN ES | HEMATOPOIESIS | MULTIDISCIPLINARY SCIENCES | CARDIAC-HYPERTROPHY | DISEASE | LEUKEMOGENESIS | DIFFERENTIATION | LEUKEMIA | FIBROBLASTS | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - metabolism | Embryonic Stem Cells - metabolism | Humans | Male | Gene Expression Profiling | LEOPARD Syndrome - drug therapy | Octamer Transcription Factor-3 - genetics | Phosphoproteins - analysis | SOXB1 Transcription Factors - genetics | Polymerase Chain Reaction | Adult | Female | Cell Differentiation | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Precision Medicine | Induced Pluripotent Stem Cells - pathology | Cell Line | Induced Pluripotent Stem Cells - enzymology | Nanog Homeobox Protein | LEOPARD Syndrome - metabolism | NFATC Transcription Factors - metabolism | Cells, Cultured | Fibroblasts - pathology | Homeodomain Proteins - genetics | Cell Lineage | Myocytes, Cardiac - pathology | Models, Biological | LEOPARD Syndrome - pathology | Myocytes, Cardiac - metabolism | Enzyme Activation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Mitogen-Activated Protein Kinases - metabolism | NFATC Transcription Factors - genetics | Proteins | Signal transduction | Insects | Genes | Cardiomyocytes | Mutation | Kinases
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2. Full Text UNEXPLAINED EARLY-ONSET LACUNAR STROKE AND INFLAMMATORY SKIN LESIONS: CONSIDER ADA2 DEFICIENCY
by Westendorp, Willeke F and Nederkoorn, Paul J and Aksentijevich, Ivona and Hak, A. Elisabeth and Lichtenbelt, Klaske D and Braun, Kees P. J
Neurology, ISSN 0028-3878, 2015, Volume 84, Issue 20, pp. 2092 - 2093
We report 2 brothers who presented at young age with multiple lacunar strokes, inflammatory skin rash, and a range of neurologic symptoms. 
CLINICAL NEUROLOGY | Dermatitis - complications | Age Factors | Adenosine Deaminase - genetics | Dermatitis - genetics | Humans | Stroke, Lacunar - genetics | Intercellular Signaling Peptides and Proteins - genetics | Male | Stroke, Lacunar - complications | Stroke, Lacunar - diagnosis | Homozygote | Intercellular Signaling Peptides and Proteins - deficiency | Mutation | Adenosine Deaminase - deficiency | Child | Dermatitis - diagnosis | Clinical | Scientific Notes | 131
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3. Full Text PLS3 Mutations in X-Linked Osteoporosis with Fractures
by van Dijk, Fleur S and Zillikens, M. Carola and Micha, Dimitra and Riessland, Markus and Marcelis, Carlo L.M and de Die-Smulders, Christine E and Milbradt, Janine and Franken, Anton A and Harsevoort, Arjan J and Lichtenbelt, Klaske D and Pruijs, Hans E and Rubio-Gozalbo, M. Estela and Zwertbroek, Rolf and Moutaouakil, Youssef and Egthuijsen, Jaqueline and Hammerschmidt, Matthias and Bijman, Renate and Semeins, Cor M and Bakker, Astrid D and Everts, Vincent and Klein-Nulend, Jenneke and Campos-Obando, Natalia and Hofman, Albert and te Meerman, Gerard J and Verkerk, Annemieke J.M.H and Uitterlinden, André G and Maugeri, Alessandra and Sistermans, Erik A and Waisfisz, Quinten and Meijers-Heijboer, Hanne and Wirth, Brunhilde and Simon, Marleen E.H and Pals, Gerard
The New England Journal of Medicine, ISSN 0028-4793, 10/2013, Volume 369, Issue 16, pp. 1529 - 1536
The authors report data from five families with pathogenic variants in the gene for plastin 3, PLS3. Findings in these families and in zebrafish indicate that... 
ACTIN | MEDICINE, GENERAL & INTERNAL | PLASTIN | Humans | Risk Factors | Child, Preschool | Male | Zebrafish | Bone Density - genetics | Fractures, Bone - genetics | Membrane Glycoproteins - genetics | Young Adult | Animals | Fractures, Bone - etiology | Pedigree | Osteoporosis - complications | Adult | Female | Genetic Diseases, X-Linked - genetics | Heterozygote | Osteoporosis - genetics | Polymorphism, Single Nucleotide | Bone Remodeling - genetics | Mutation | Child | Microfilament Proteins - genetics | Causes of | Osteoporosis | Genetic aspects | Research | Gene mutations | Women | Genetic diversity | Patients | Studies | Fractures | Actin | Fibroblasts | Osteogenesis imperfecta | Bones | Osteogenesis | Geriatrics
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4. Full Text Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
by van Montfrans, Joris M and Hartman, Esther A. R and Braun, Kees P. J and Hennekam, Eric A. M and Hak, Elisabeth A and Nederkoorn, Paul J and Westendorp, Willeke F and Bredius, Robbert G. M and Kollen, Wouter J. W and Schölvinck, Elisabeth H and Legger, G. Elizabeth and Meyts, Isabelle and Liston, Aian and Lichtenbelt, Klaske D and Giltay, Jacques C and van Haaften, Gijs and de Vries Simons, Gaby M and Leavis, Helen and Sanders, Cornelis J. G and Bierings, Marc B and Nierkens, Stefan and van Gijn, Marielle E
Rheumatology (Oxford, England), ISSN 1462-0324, 2016, Volume 55, Issue 5, pp. 902 - 910
To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations inCECR1... 
CECR1 | Early-onset stroke | Phenotype | Vasculitis | Auto-inflammatory disease | Genotype | ADA2 | Livedo reticularis | phenotype | early-onset stroke | vasculitis | auto-inflammatory disease | livedo reticularis | genotype | STROKE | RHEUMATOLOGY | VASCULOPATHY | ADENOSINE-DEAMINASE 2 | Haplotypes | Agammaglobulinemia - genetics | Adenosine Deaminase - genetics | Humans | Immunosuppressive Agents - therapeutic use | Intercellular Signaling Peptides and Proteins - genetics | Severe Combined Immunodeficiency - drug therapy | Child, Preschool | Infant | Male | Intercellular Signaling Peptides and Proteins - blood | Adenosine Deaminase - blood | Founder Effect | Homozygote | Severe Combined Immunodeficiency - genetics | Agammaglobulinemia - drug therapy | Pedigree | Female | Intercellular Signaling Peptides and Proteins - deficiency | Mutation | Adenosine Deaminase - deficiency | Child | Infant, Newborn
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5. Full Text Loss-of-function variants in myocardin cause congenital megabladder in humans and mice
by Houweling, Arjan C and Beaman, Glenda M and Postma, Alex V and Gainous, T Blair and Lichtenbelt, Klaske D and Brancati, Francesco and Lopes, Filipa M and van der Made, Ingeborg and Polstra, Abeltje M and Robinson, Michael L and Wright, Kevin D and Ellingford, Jamie M and Jackson, Ashley R and Overwater, Eline and Genesio, Rita and Romano, Silvio and Camerota, Letizia and D'Angelo, Emanuela and Meijers-Heijboer, Elizabeth J and Christoffels, Vincent M and McHugh, Kirk M and Black, Brian L and Newman, William G and Woolf, Adrian S and Creemers, Esther E
The Journal of clinical investigation, ISSN 0021-9738, 09/2019
Myocardin (MYOCD) is the founding member of a class of transcriptional co-activators that bind serum response factor to activate gene expression programs... 
Index Medicus | Abridged Index Medicus
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6. Full Text Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
by Talkowski, Michael E and Mullegama, Sureni V and Rosenfeld, Jill A and van Bon, Bregje W.M and Shen, Yiping and Repnikova, Elena A and Gastier-Foster, Julie and Thrush, Devon Lamb and Kathiresan, Sekar and Ruderfer, Douglas M and Chiang, Colby and Hanscom, Carrie and Ernst, Carl and Lindgren, Amelia M and Morton, Cynthia C and An, Yu and Astbury, Caroline and Brueton, Louise A and Lichtenbelt, Klaske D and Ades, Lesley C and Fichera, Marco and Romano, Corrado and Innis, Jeffrey W and Williams, Charles A and Bartholomew, Dennis and Van Allen, Margot I and Parikh, Aditi and Zhang, Lilei and Wu, Bai-Lin and Pyatt, Robert E and Schwartz, Stuart and Shaffer, Lisa G and de Vries, Bert B.A and Gusella, James F and Elsea, Sarah H
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 89, Issue 4, pp. 551 - 563
Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors... 
SMITH-MAGENIS-SYNDROME | CHROMOSOME REARRANGEMENTS | GENOTYPE | GENETICS & HEREDITY | PHENOTYPE | FRAMEWORK | SCHIZOPHRENIA | PATIENT | HYBRIDIZATION | DELETIONS | GENOME-WIDE ASSOCIATION | Epigenesis, Genetic | Humans | Child, Preschool | Male | DNA-Binding Proteins - genetics | Case-Control Studies | Syndrome | Intellectual Disability - genetics | Chromosomes, Human, Pair 2 | Phenotype | Child Development Disorders, Pervasive - genetics | Gene Deletion | Adolescent | CpG Islands | Adult | Epilepsy - genetics | Female | Child | Breakpoints | Epilepsy | Gene expression | Neurodevelopmental disorders | Mental retardation | epigenetics | Chromatin remodeling | Autism | Chromosome translocations | haploinsufficiency | Coding | Etiology | medical records
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7. Full Text A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
by Munot, Pinki and Saunders, Dawn E and Milewicz, Dianna M and Regalado, Ellen S and Ostergaard, John R and Braun, Kees P and Kerr, Timothy and Lichtenbelt, Klaske D and Philip, Sunny and Rittey, Christopher and Jacques, Thomas S and Cox, Timothy C and Ganesan, Vijeya
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 8, pp. 2506 - 2514
Mutations in the ACTA2 gene lead to diffuse and diverse vascular diseases; the Arg179His mutation is associated with an early onset severe phenotype due to... 
ACTA2 | moyamoya | stroke | child | MOYAMOYA-DISEASE | VESSELS | PEDIATRIC STROKE | ARTERIAL ISCHEMIC-STROKE | RISK | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | Humans | Child, Preschool | Infant | Male | Mutation, Missense - genetics | Actins - genetics | Phenotype | Cerebrovascular Disorders - diagnosis | Arginine - genetics | Adolescent | Adult | Female | Heterozygote | Cerebrovascular Disorders - genetics | Child | Moyamoya Disease - diagnosis | Moyamoya Disease - genetics | Original
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8. Full Text De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
by Hempel, Maja and Cremer, Kirsten and Ockeloen, Charlotte W and Lichtenbelt, Klaske D and Herkert, Johanna C and Denecke, Jonas and Haack, Tobias B and Zink, Alexander M and Becker, Jessica and Wohlleber, Eva and Johannsen, Jessika and Alhaddad, Bader and Pfundt, Rolph and Fuchs, Sigrid and Wieczorek, Dagmar and Strom, Tim M and van Gassen, Koen L.I and Kleefstra, Tjitske and Kubisch, Christian and Engels, Hartmut and Lessel, Davor
The American Journal of Human Genetics, ISSN 0002-9297, 09/2015, Volume 97, Issue 3, pp. 493 - 500
encodes a protein with a function in kinetochore-microtubule attachment and in the regulation of chromosome segregation, both of which are known to be... 
KIF5C | GENETICS & HEREDITY | Abnormalities, Multiple - pathology | Humans | Speech Disorders - genetics | Molecular Sequence Data | Male | Phosphoproteins - genetics | Sequence Analysis, DNA | Chromosomal Proteins, Non-Histone - genetics | Intellectual Disability - genetics | Base Sequence | Female | Abnormalities, Multiple - genetics | Codon, Nonsense - genetics | Genetic aspects | Gene mutations | Observations | Mental retardation | Speech disorders | Report
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9. Full Text Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3
by Villegas, Florian and Lehalle, Daphné and Mayer, Daniela and Rittirsch, Melanie and Stadler, Michael B and Zinner, Marietta and Olivieri, Daniel and Vabres, Pierre and Duplomb-Jego, Laurence and De Bont, Eveline S.J.M and Duffourd, Yannis and Duijkers, Floor and Avila, Magali and Geneviève, David and Houcinat, Nada and Jouan, Thibaud and Kuentz, Paul and Lichtenbelt, Klaske D and Thauvin-Robinet, Christel and St-Onge, Judith and Thevenon, Julien and van Gassen, Koen L.I and van Haelst, Mieke and van Koningsbruggen, Silvana and Hess, Daniel and Smallwood, Sebastien A and Rivière, Jean Baptiste and Faivre, Laurence and Betschinger, Joerg
Cell Stem Cell, ISSN 1934-5909, 02/2019, Volume 24, Issue 2, p. 257
Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether... 
Flcn | Rag GTPases | differentiation | Ragulator | embryonic stem cell | Tfe3 | mTOR | Genetics | Molecular Medicine | pluripotency | developmental disorder | Cell Biology
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10. Full Text Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3
by Villegas, Florian and Lehalle, Daphné and Mayer, Daniela and Rittirsch, Melanie and Stadler, Michael B and Zinner, Marietta and Olivieri, Daniel and Vabres, Pierre and Duplomb-Jego, Laurence and de Bont, Eveline S. J. M and Duffourd, Yannis and Duijkers, Floor and Avila, Magali and Geneviève, David and Houcinat, Nada and Jouan, Thibaud and Kuentz, Paul and Lichtenbelt, Klaske D and Thauvin-Robinet, Christel and St-Onge, Judith and Thevenon, Julien and van Gassen, Koen L. I and van Haelst, Mieke and van Koningsbruggen, Silvana and Hess, Daniel and Smallwood, Sebastien A and Rivière, Jean-Baptiste and Faivre, Laurence and Betschinger, Joerg
Cell Stem Cell, ISSN 1934-5909, 2019, Volume 24, Issue 2, pp. 257 - 270.e8
Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether... 
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11. Full Text Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3
by Villegas, Florian and Lehalle, Daphné and Mayer, Daniela and Rittirsch, Melanie and Stadler, Michael B and Zinner, Marietta and Olivieri, Daniel and Vabres, Pierre and Duplomb-Jego, Laurence and De Bont, Eveline S.J.M and Duffourd, Yannis and Duijkers, Floor and Avila, Magali and Geneviève, David and Houcinat, Nada and Jouan, Thibaud and Kuentz, Paul and Lichtenbelt, Klaske D and Thauvin-Robinet, Christel and St-Onge, Judith and Thevenon, Julien and van Gassen, Koen L.I and van Haelst, Mieke and van Koningsbruggen, Silvana and Hess, Daniel and Smallwood, Sebastien A and Rivière, Jean-Baptiste and Faivre, Laurence and Betschinger, Joerg
Cell Stem Cell, ISSN 1934-5909, 02/2019, Volume 24, Issue 2, pp. 257 - 270.e8
Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether... 
Flcn | Rag GTPases | differentiation | Ragulator | embryonic stem cell | Tfe3 | mTOR | pluripotency | developmental disorder | FOLLICULIN | RECRUITMENT | COMPLEX | RAG GTPASES | PATHWAY | NAIVE PLURIPOTENCY | TUMOR-SUPPRESSOR | AMINO-ACID LEVELS | SPECIFICATION | MTOR | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Life Sciences | Genetics | Human genetics
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12. Full Text Identification of human D lactate dehydrogenase deficiency
by Monroe, Glen R and van Eerde, Albertien M and Tessadori, Federico and Duran, Karen J and Savelberg, Sanne M C and van Alfen, Johanna C and Terhal, Paulien A and van der Crabben, Saskia N and Lichtenbelt, Klaske D and Fuchs, Sabine A and Gerrits, Johan and van Roosmalen, Markus J and van Gassen, Koen L and van Aalderen, Mirjam and Koot, Bart G and Oostendorp, Marlies and Duran, Marinus and Visser, Gepke and de Koning, Tom J and Calì, Francesco and Bosco, Paolo and Geleijns, Karin and de Sain-van der Velden, Monique G M and Knoers, Nine V and Bakkers, Jeroen and Verhoeven-Duif, Nanda M and van Haaften, Gijs and Jans, Judith J
Nature Communications, ISSN 2041-1723, 04/2019, Volume 10, Issue 1
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the... 
Research Support, Non-U.S. Gov't | Journal Article
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13. Full Text Identification of human D lactate dehydrogenase deficiency
by Monroe, Glen R and van Eerde, Albertien M and Tessadori, Federico and Duran, Karen J and Savelberg, Sanne M. C and van Alfen, Johanna C and Terhal, Paulien A and van der Crabben, Saskia N and Lichtenbelt, Klaske D and Fuchs, Sabine A and Gerrits, Johan and van Roosmalen, Markus J and van Gassen, Koen L and van Aalderen, Mirjam and Koot, Bart G and Oostendorp, Marlies and Duran, Marinus and Visser, Gepke and de Koning, Tom J and Cali, Francesco and Bosco, Paolo and Geleijns, Karin and de Sain-van der Velden, Monique G. M and Knoers, Nine and Bakkers, Jeroen and Verhoeven-Duif, Nanda M and van Haaften, Gijs and Jans, Judith J
Nature Communications, ISSN 2041-1723, 04/2019, Volume 10
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the... 
ANIRIDIA | DIAGNOSIS | METABOLISM | GENE | ACIDS | ABNORMALITIES | PURIFICATION | DISORDERS | EXPRESSION | D-LACTIC ACIDOSIS
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14. Full Text Identification of human D lactate dehydrogenase deficiency
by Monroe, Glen R and van Eerde, Albertien M and Tessadori, Federico and Duran, Karen J and Savelberg, Sanne M. C and van Alfen, Johanna C and Terhal, Paulien A and van der Crabben, Saskia N and Lichtenbelt, Klaske D and Fuchs, Sabine A and Gerrits, Johan and van Roosmalen, Markus J and van Gassen, Koen L and van Aalderen, Mirjam and Koot, Bart G and Oostendorp, Marlies and Duran, Marinus and Visser, Gepke and de Koning, Tom J and Calì, Francesco and Bosco, Paolo and Geleijns, Karin and de Sain-van der Velden, Monique G. M and Knoers, Nine V and Bakkers, Jeroen and Verhoeven-Duif, Nanda M and van Haaften, Gijs and Jans, Judith J
Nature Communications, ISSN 2041-1723, 2019, Volume 10, Issue 1
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the... 
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15. Full Text Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
by Kerstjens-Frederikse, Wilhelmina S and van de Laar, Ingrid M. B. H and Vos, Yvonne J and Verhagen, Judith M. A and Berger, Rolf M. F and Lichtenbelt, Klaske D and Wassink-Ruiter, Jolien S. Klein and van der Zwaag, Paul A and Sarvaas, Gideon J. du Marchie and Bergman, Klasien A and Bilardo, Catia M and Roos-Hesselink, Jolien W and Janssen, Johan H. P and Frohn-Mulder, Ingrid M and van Spaendonck-Zwarts, Karin Y and Melle, van, Joost P and Hofstra, Robert M. W and Wessels, M. W
Genetics in Medicine, ISSN 1098-3600, 09/2016, Volume 18, Issue 9, pp. 914 - 923
Purpose: We aimed to determine the prevalence and phenotypic spectrum of NOTCH1 mutations in left-sided congenital heart disease (LS-CHD). LS-CHD includes... 
aortic valve | NOTCH1 | hypoplastic left heart syndrome | VARIANTS | bicuspid | HYPOPLASTIC LEFT-HEART | CARDIAC ANOMALIES | IDENTIFICATION | HAPLOINSUFFICIENCY | INTEGRATION | DISEASE | ADAMS-OLIVER SYNDROME | BICUSPID AORTIC-VALVE | NEURAL CREST | aortic coarctation | GENETICS & HEREDITY | Aortic Aneurysm, Thoracic - genetics | Humans | Middle Aged | Heart Failure - physiopathology | Child, Preschool | Heart Failure - genetics | Male | Hypoplastic Left Heart Syndrome - physiopathology | Aortic Aneurysm, Thoracic - physiopathology | Heart Defects, Congenital - genetics | Pedigree | Adolescent | Adult | Female | Aged | Heart Defects, Congenital - physiopathology | Aorta - physiopathology | Hypoplastic Left Heart Syndrome - genetics | Mutation | Receptor, Notch1 - genetics | Child
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16. Full Text Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
by van Rijn, Jorik M and Ardy, Rico Chana and Kuloğlu, Zarife and Härter, Bettina and van Haaften-Visser, Désirée Y and van der Doef, Hubert P.J and van Hoesel, Marliek and Kansu, Aydan and van Vugt, Anke H.M and Thian, Marini and Kokke, Freddy T.M and Krolo, Ana and Başaran, Meryem Keçeli and Kaya, Neslihan Gurcan and Aksu, Aysel Ünlüsoy and Dalgıç, Buket and Ozcay, Figen and Baris, Zeren and Kain, Renate and Stigter, Edwin C.A and Lichtenbelt, Klaske D and Massink, Maarten P.G and Duran, Karen J and Verheij, Joke B.G.M and Lugtenberg, Dorien and Nikkels, Peter G.J and Brouwer, Henricus G.F and Verkade, Henkjan J and Scheenstra, René and Spee, Bart and Nieuwenhuis, Edward E.S and Coffer, Paul J and Janecke, Aneas R and van Haaften, Gijs and Houwen, Roderick H.J and Müller, Thomas and Middendorp, Sabine and Boztug, Kaan
Gastroenterology, ISSN 0016-5085, 07/2018, Volume 155, Issue 1, p. 130
Background & Aims: Congenital diarrheal disorders are rare inherited intestinal disorders characterized by intractable, sometimes life-threatening, diarrhea... 
CDD | Gastroenterology | PLE | 3-D Culture Model | Genomic
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17. Full Text Identification of human D lactate dehydrogenase deficiency
by Monroe, Glen R and van Eerde, Albertien M and Tessadori, Federico and Duran, Karen J and Savelberg, Sanne M. C and van Alfen, Johanna C and Terhal, Paulien A and van der Crabben, Saskia N and Lichtenbelt, Klaske D and Fuchs, Sabine A and Gerrits, Johan and van Roosmalen, Markus J and van Gassen, Koen L and van Aalderen, Mirjam and Koot, Bart G and Oostendorp, Marlies and Duran, Marinus and Visser, Gepke and de Koning, Tom J and Calì, Francesco and Bosco, Paolo and Geleijns, Karin and de Sain-van der Velden, Monique G. M and Knoers, Nine V and Bakkers, Jeroen and Verhoeven-Duif, Nanda M and van Haaften, Gijs and Jans, Judith J
Nature communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 1477 - 8
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the... 
ANIRIDIA | DIAGNOSIS | METABOLISM | GENE | ACIDS | ABNORMALITIES | MULTIDISCIPLINARY SCIENCES | PURIFICATION | DISORDERS | EXPRESSION | D-LACTIC ACIDOSIS | Excretion | Dehydrogenases | Lactate dehydrogenase | Zebrafish | Short bowel syndrome | Dehydrogenase | Metabolism | Patients | L-Lactate dehydrogenase | Intestine | Differential diagnosis | Lactic acid | Acidosis | Human behavior | Lactic acidosis
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18. Full Text Identification of human D lactate dehydrogenase deficiency
by Monroe, Glen R and van Eerde, Albertien M and Tessadori, Federico and Duran, Karen J and Savelberg, Sanne M C and van Alfen, Johanna C and Terhal, Paulien A and van der Crabben, Saskia N and Lichtenbelt, Klaske D and Fuchs, Sabine A and Gerrits, Johan and van Roosmalen, Markus J and van Gassen, Koen L and van Aalderen, Mirjam and Koot, Bart G and Oostendorp, Marlies and Duran, Marinus and Visser, Gepke and de Koning, Tom J and Calì, Francesco and Bosco, Paolo and Geleijns, Karin and de Sain-van der Velden, Monique G M and Knoers, Nine V and Bakkers, Jeroen and Verhoeven-Duif, Nanda M and van Haaften, Gijs and Jans, Judith J
Nature Communications, ISSN 2041-1723, 04/2019, Volume 10, Issue 1
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the... 
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19. Full Text TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
by van der Meij, Karuna R M and Sistermans, Erik A and Macville, Merryn V E and Stevens, Servi J C and Bax, Caroline J and Bekker, Mireille N and Bilardo, Caterina M and Boon, Elles M J and Boter, Marjan and Diderich, Karin E M and de Die-Smulders, Christine E M and Duin, Leonie K and Faas, Brigitte H W and Feenstra, Ilse and Haak, Monique C and Hoffer, Mariëtte J V and den Hollander, Nicolette S and Hollink, Iris H I M and