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Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous Mutation and Bone Histological Findings.
Published in:
Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 228, doi. 10.2350/10-03-0806-CR.1
By:
- VAN DIJK, FLEUR S.;
- NIKKELS, PETER G. J.;
- DEN HOLLANDER, NICOLETTE S.;
- NESBITT, ISABEL M.;
- VAN RIJN, RICK R.;
- COBBEN, JAN M.;
- PALS, GERARD
Publication type:
Article
Type III Collagen Deficiency in a Family with Intracranial Aneurysms.
Published in:
Cerebrovascular Diseases, 2001, v. 11, n. 2, p. 92, doi. 10.1159/000047618
By:
- van den Berg, Jan S. P.;
- Limburg, Martien;
- Pals, Gerard;
- Arwert, Fre;
- Westerveld, Andries
Publication type:
Article
The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas.
Published in:
Molecular Human Reproduction, 2004, v. 10, n. 8, p. 589, doi. 10.1093/molehr/gah080
By:
- Oudejans, Cees B.M.;
- Mulders, Joyce;
- Lachmeijer, Augusta M.A.;
- van Dijk, Marie;
- Könst, Andrea A.M.;
- Westerman, Bart A.;
- van Wijk, Inge J.;
- Leegwater, Peter A.J.;
- Kato, Hidenori D.;
- Matsuda, Takao;
- Wake, Norio;
- Dekker, Gustaaf A.;
- Pals, Gerard;
- ten Kate, Leo P.;
- Blankenstein, Marinus A.
Publication type:
Article
Muscle weakness as presenting symptom of osteogenesis imperfecta.
Published in:
2006
By:
- Boot, Annemieke M.;
- De Coo, Rene F. M.;
- Pals, Gerard;
- De Muinck Keizer-Schrama, Sabine M. P. F.
Publication type:
journal article
Collagen transport and related pathways in Osteogenesis Imperfecta.
Published in:
Human Genetics, 2021, v. 140, n. 8, p. 1121, doi. 10.1007/s00439-021-02302-2
By:
- Claeys, Lauria;
- Storoni, Silvia;
- Eekhoff, Marelise;
- Elting, Mariet;
- Wisse, Lisanne;
- Pals, Gerard;
- Bravenboer, Nathalie;
- Maugeri, Alessandra;
- Micha, Dimitra
Publication type:
Article
Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-18512-1
By:
- Cayami, Ferdy K.;
- Claeys, Lauria;
- de Ruiter, Ruben;
- Smilde, Bernard J.;
- Wisse, Lisanne;
- Bogunovic, Natalija;
- Riesebos, Elise;
- Eken, Lyra;
- Kooi, Irsan;
- Sistermans, Erik A.;
- Bravenboer, Nathalie;
- Pals, Gerard;
- Faradz, Sultana M. H.;
- Sie, Daoud;
- Eekhoff, E. Marelise W.;
- Micha, Dimitra
Publication type:
Article
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 89, doi. 10.1002/ajmg.c.31968
By:
- Kos, Renate;
- Israëls, Joël;
- van Gogh, Christine D. L.;
- Altenburg, Josje;
- Diepenhorst, Sandra;
- Paff, Tamara;
- Boon, Elles M. J.;
- Micha, Dimitra;
- Pals, Gerard;
- Neerincx, Anne H.;
- Maitland‐van der Zee, Anke H.;
- Haarman, Eric G.
Publication type:
Article
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 479, doi. 10.1002/ajmg.a.63047
By:
- Lauffer, Peter;
- Pals, Gerard;
- Zwinderman, Aeilko H.;
- Postema, Floor A. M.;
- Baars, Marieke J. H.;
- Dulfer, Eelco;
- Hilhorst‐Hofstee, Yvonne;
- Houweling, Arjan C.;
- Kempers, Marlies;
- Krapels, Ingrid P. C.;
- van de Laar, Ingrid M. B. H.;
- Loeys, Bart;
- Spaans, Alexander M. J.;
- Warnink‐Kavelaars, Jessica;
- de Waard, Vivian;
- Wit, Jan M.;
- Menke, Leonie A.
Publication type:
Article
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1196, doi. 10.1002/ajmg.a.36997
By:
- Monroe, Glen R;
- Harakalova, Magdalena;
- van der Crabben, Saskia N;
- Majoor‐Krakauer, Danielle;
- Bertoli‐Avella, Aida M;
- Moll, Frans L;
- Oranen, Björn I;
- Dooijes, Dennis;
- Vink, Aryan;
- Knoers, Nine V;
- Maugeri, Alessandra;
- Pals, Gerard;
- Nijman, Isaac J;
- van Haaften, Gijs;
- Baas, Annette F
Publication type:
Article
Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer.
Published in:
Journal of Pathology, 2001, v. 195, n. 4, p. 451, doi. 10.1002/path.1000
By:
- Piek, Jurgen M. J.;
- van Diest, Paul J.;
- Zweemer, Ronald P.;
- Jansen, Jan W.;
- Poort-Keesom, Ria J. J.;
- Menko, Fred H.;
- Gille, Johan J. P.;
- Jongsma, Ans P. M.;
- Pals, Gerard;
- Kenemans, Peter;
- Verheijen, René H. M.
Publication type:
Article
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
Published in:
Nature Genetics, 2011, v. 43, n. 2, p. 121, doi. 10.1038/ng.744
By:
- van de Laar, Ingrid M. B. H.;
- Oldenburg, Rogier A.;
- Pals, Gerard;
- Roos-Hesselink, Jolien W.;
- de Graaf, Bianca M.;
- Verhagen, Judith M. A.;
- Hoedemaekers, Yvonne M.;
- Willemsen, Rob;
- Severijnen, Lies-Anne;
- Venselaar, Hanka;
- Vriend, Gert;
- Pattynama, Peter M.;
- Collée, Margriet;
- Majoor-Krakauer, Danielle;
- Poldermans, Don;
- Frohn-Mulder, Ingrid M. E.;
- Micha, Dimitra;
- Timmermans, Janneke;
- Hilhorst-Hofstee, Yvonne;
- Bierma-Zeinstra, Sita M.
Publication type:
Article
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Published in:
Nature Genetics, 2007, v. 39, n. 2, p. 159, doi. 10.1038/ng1942
By:
- Bing Xia;
- Dorsman, Josephine C.;
- Ameziane, Najim;
- de Vries, Yne;
- Rooimans, Martin A.;
- Qing Sheng;
- Pals, Gerard;
- Errami, Abdellatif;
- Gluckman, Eliane;
- Llera, Julian;
- Weidong Wang;
- Livingston, David M.;
- Joenje, Hans;
- de Winter, Johan P.
Publication type:
Article
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
Published in:
2005
By:
- Levitus, Marieke;
- Waisfisz, Quinten;
- Godthelp, Barbara C.;
- Vries, Yne de;
- Hussain, Shobbir;
- Wiegant, Wouter W.;
- Elghalbzouri-Maghrani, Elhaam;
- Steltenpool, Jûrgen;
- Rooimans, Martin A.;
- Pals, Gerard;
- Arwert, Fré;
- Mathew, Christopher G.;
- Zdzienicka, Małgorzata Z.;
- Hiom, Kevin;
- de Winter, Johan P.;
- Joenje, Hans
Publication type:
Letter
X-linked inheritance of Fanconi anemia complementation group B.
Published in:
Nature Genetics, 2004, v. 36, n. 11, p. 1219, doi. 10.1038/ng1458
By:
- Meetei, Amom Ruhikanta;
- Levitus, Marieke;
- Yutong Xue;
- Medhurst, Annette L;
- Zwaan, Michel;
- Chen Ling;
- Rooimans, Martin A.;
- Bier, Patrick;
- Hoatlin, Maureen;
- Pals, Gerard;
- de Winter, Johan P.;
- Weidong Wang;
- Joenje, Hans
Publication type:
Article
'Identical' twins with discordant karyotypes.
Published in:
1999
By:
- Nieuwint, Aggie;
- Van Zalen-Sprock, Rieteke;
- Hummel, Pieter;
- Pals, Gerard;
- Van Vugt, John;
- Van Der Harten, Hans;
- Heins, Yvonne;
- Madan, Kamlesh;
- Nieuwint, A;
- Van Zalen-Sprock, R;
- Hummel, P;
- Pals, G;
- Van Vugt, J;
- Van Der Harten, H;
- Heins, Y;
- Madan, K
Publication type:
journal article
Inflammation Aggravates Disease Severity in Marfan Syndrome Patients.
Published in:
PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032963
By:
- Radonic, Teodora;
- Witte, Piet de;
- Groenink, Maarten;
- Waard, Vivian de;
- Lutter, Rene;
- Eijk, Marco van;
- Jansen, Marnix;
- Timmermans, Janneke;
- Kempers, Marlies;
- Scholte, Arthur J.;
- Hilhorst-Hofstee, Yvonne;
- Van den Berg, Maarten P.;
- Peter van Tintelen, J.;
- Pals, Gerard;
- Baars, Marieke J. H.;
- Mulder, Barbara J. M.;
- Zwinderman, Aeilko H.
Publication type:
Article
From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.
Published in:
Biomolecules (2218-273X), 2023, v. 13, n. 2, p. 281, doi. 10.3390/biom13020281
By:
- Storoni, Silvia;
- Verdonk, Sara J. E.;
- Zhytnik, Lidiia;
- Pals, Gerard;
- Treurniet, Sanne;
- Elting, Mariet W.;
- Sakkers, Ralph J. B.;
- van den Aardweg, Joost G.;
- Eekhoff, Elisabeth M. W.;
- Micha, Dimitra
Publication type:
Article
The intricate mechanism of PLS3 in bone homeostasis and disease.
Published in:
Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1168306
By:
- Wenchao Zhong;
- Pathak, Janak L.;
- Yueting Liang;
- Zhytnik, Lidiia;
- Pals, Gerard;
- Eekhoff, Elisabeth M. W.;
- Bravenboer, Nathalie;
- Micha, Dimitra
Publication type:
Article
Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 10, p. -1, doi. 10.1038/ejhg.2014.274
By:
- Bravenboer, Nathalie;
- Micha, Dimitra;
- Triffit, James T;
- Bullock, Alex N;
- Ravazollo, Roberto;
- Bocciardi, Renata;
- di Rocco, Maja;
- Netelenbos, J Coen;
- Ten Dijke, Peter;
- Sánchez-Duffhues, Gonzalo;
- Kaplan, Fred S;
- Shore, Eileen M;
- Pignolo, Robert J;
- Seemann, Petra;
- Ventura, Francesc;
- Beaujat, Genevieve;
- Eekhoff, Elizabeth M W;
- Pals, Gerard
Publication type:
Article
Clinical utility gene card for: osteogenesis imperfecta.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.210
By:
- van Dijk, Fleur S;
- Dalgleish, Raymond;
- Malfait, Fransiska;
- Maugeri, Alessandra;
- Rusinska, Agnieszka;
- Semler, Oliver;
- Symoens, Sofie;
- Pals, Gerard
Publication type:
Article
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 5, p. 487, doi. 10.1038/ejhg.2012.206
By:
- Harakalova, Magdalena;
- van der Smagt, Jasper;
- de Kovel, Carolien G F;
- van't Slot, Ruben;
- Poot, Martin;
- Nijman, Isaac J;
- Medic, Jelena;
- Joziasse, Irene;
- Deckers, Jaap;
- Roos-Hesselink, Jolien W;
- Wessels, Marja W;
- Baars, Hubert F;
- Weiss, Marjan M;
- Pals, Gerard;
- Golmard, Lisa;
- Jeunemaitre, Xavier;
- Lindhout, Dick;
- Cuppen, Edwin;
- Baas, Annette F
Publication type:
Article
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 1, p. 11, doi. 10.1038/ejhg.2011.141
By:
- van Dijk, Fleur S;
- Byers, Peter H;
- Dalgleish, Raymond;
- Malfait, Fransiska;
- Maugeri, Alessandra;
- Rohrbach, Marianne;
- Symoens, Sofie;
- Sistermans, Erik A;
- Pals, Gerard
Publication type:
Article
The clinical spectrum of complete FBN1 allele deletions.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
By:
- Hilhorst-Hofstee, Yvonne;
- Hamel, Ben C. J.;
- Verheij, Joke B. G. M.;
- Rijlaarsdam, Marry E. B.;
- Mancini, Grazia M. S.;
- Cobben, Jan M.;
- Giroth, Cindy;
- Ruivenkamp, Claudia A. L.;
- Hansson, Kerstin B. M.;
- Timmermans, Janneke;
- Moll, Henriette A.;
- Breuning, Martijn H.;
- Pals, Gerard
Publication type:
Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
2009
By:
- Van Dijk, Fleur S.;
- Nesbitt, Isabel M.;
- Nikkels, Peter G. J.;
- Dalton, Ann;
- Bongers, Ernie M. H. F.;
- van de Kamp, Jiddeke M.;
- Hilhorst-Hofstee, Yvonne;
- Den Hollander, Nicolette S.;
- Lachmeijer, Augusta M. A.;
- Marcelis, Carlo L.;
- Tan-Sindhunata, Gita M. B.;
- van Rijn, Rick R.;
- Meijers-Heijboer, Hanne;
- Cobben, Jan M.;
- Pals, Gerard
Publication type:
Correction Notice
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
By:
- Van Dijk, Fleur S.;
- Nesbitt, Isabel M.;
- Nikkels, Peter G. J.;
- Dalton, Ann;
- Bongers, Ernie M. H. F.;
- van de Kamp, Jiddeke M.;
- Hilhorst-Hofstee, Yvonne;
- Den Hollander, Nicolette S.;
- Lachmeijer, Augusta M. A.;
- Marcelis, Carlo L.;
- Tan-Sindhunata, Gita M. B.;
- van Rijn, Rick R.;
- Meijers-Heijboer, Hanne;
- Cobben, Jan M.;
- Pals, Gerard
Publication type:
Article
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 9, p. 930, doi. 10.1038/sj.ejhg.5201865
By:
- de Vries, Bert B. A.;
- Pals, Gerard;
- Odink, Roelof;
- Hamel, Ben C. J.
Publication type:
Article
Mechanical stress regulates bone regulatory gene expression independent of estrogen and vitamin D deficiency in rats.
Published in:
Journal of Orthopaedic Research, 2021, v. 39, n. 1, p. 42, doi. 10.1002/jor.24775
By:
- Nepal, Ashwini Kumar;
- Essen, Huib W.;
- Veen, Albert J.;
- Wieringen, Wessel N.;
- Stavenuiter, Andrea W. D.;
- Cayami, Ferdy Kurniawan;
- Pals, Gerard;
- Micha, Dimitra;
- Vanderschueren, Dirk;
- Lips, Paul;
- Bravenboer, Nathalie
Publication type:
Article
BRCA1 and BRCA2 germline mutation analysis in the Indonesian population.
Published in:
Breast Cancer Research & Treatment, 2007, v. 106, n. 2, p. 297, doi. 10.1007/s10549-006-9493-4
By:
- Dewajani Purnomosari;
- Gerard Pals;
- Artanto Wahyono;
- Teguh Aryandono;
- Tjakra Manuaba;
- Samuel Haryono;
- Paul van Diest
Publication type:
Article
High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model.
Published in:
Breast Cancer Research & Treatment, 2006, v. 96, n. 2, p. 177, doi. 10.1007/s10549-005-9077-8
By:
- Worsham, Maria;
- Pals, Gerard;
- Schouten, Jan;
- Miller, Fred;
- Tiwari, Nivedita;
- Spaendonk, Rosalina;
- Wolman, Sandra
Publication type:
Article
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.
Published in:
Nucleic Acids Research, 2002, v. 30, n. 12, p. e57, doi. 10.1093/nar/gnf056
By:
- Schouten, Jan P.;
- McElgunn, Cathal J.;
- Waaijer, Raymond;
- Zwijnenburg, Danny;
- Diepvens, Filip;
- Pals, Gerard
Publication type:
Article
Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop.
Published in:
Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.732728
By:
- de Ruiter, Ruben D.;
- Smilde, Bernard J.;
- Pals, Gerard;
- Bravenboer, Nathalie;
- Knaus, Petra;
- Schoenmaker, Ton;
- Botman, Esmée;
- Sánchez-Duffhues, Gonzalo;
- Pacifici, Maurizio;
- Pignolo, Robert J.;
- Shore, Eileen M.;
- van Egmond, Marjolein;
- Van Oosterwyck, Hans;
- Kaplan, Frederick S.;
- Hsiao, Edward C.;
- Yu, Paul B.;
- Bocciardi, Renata;
- De Cunto, Carmen Laura;
- Longo Ribeiro Delai, Patricia;
- de Vries, Teun J.
Publication type:
Article
Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report.
Published in:
2022
By:
- Yuniati, Renni;
- Hellmi, Rakhma Yanti;
- Dwijayanti, Gema Citra;
- Astuti, Meira Dewi Kusuma;
- Pals, Gerard;
- Micha, Dimitra;
- Faradz, Sultana MH
Publication type:
Case Study
Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.943
By:
- Cozijnsen, Luc;
- Plomp, Astrid S.;
- Post, Jan G.;
- Pals, Gerard;
- Bogunovic, Natalija;
- Yeung, Kak K.;
- Niessen, Hans W. M.;
- Goumans, Marie‐José T. H.;
- Barge‐Schaapveld, Daniela Q. C. M.;
- Micha, Dimitra
Publication type:
Article
The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.823
By:
- Cayami, Ferdy K.;
- Maugeri, Alessandra;
- Treurniet, Sanne;
- Setijowati, Eva D.;
- Teunissen, Bernd P.;
- Eekhoff, Elisabeth M.W.;
- Pals, Gerard;
- Faradz, Sultana M.;
- Micha, Dimitra
Publication type:
Article
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371
By:
- Schwarze, Ulrike;
- Cundy, Tim;
- Pyott, Shawna M.;
- Christiansen, Helena E.;
- Hegde, Madhuri R.;
- Bank, Ruud A.;
- Pals, Gerard;
- Ankala, Arunkanth;
- Conneely, Karen;
- Seaver, Laurie;
- Yandow, Suzanne M.;
- Raney, Ellen;
- Babovic-Vuksanovic, Dusica;
- Stoler, Joan;
- Ben-Neriah, Ziva;
- Segel, Reeval;
- Lieberman, Sari;
- Siderius, Liesbeth;
- Al-Aqeel, Aida;
- Hannibal, Mark
Publication type:
Article
Bioactivity of compounds secreted by symbiont bacteria of Nudibranchs from Indonesia.
Published in:
PeerJ, 2020, p. 1, doi. 10.7717/peerj.8093
By:
- Kristiana, Rhesi;
- Bedoux, Gilles;
- Pals, Gerard;
- Wayan Mudiantaa, I.;
- Taupin, Laure;
- Marty, Christel;
- Asagabaldan, Meezan Ardhanu;
- Ayuningrum, Diah;
- Trianto, Agus;
- Bourgougnon, Nathalie;
- Radjasa, Ocky Karna;
- Sabdono, Agus;
- Hanafi, Muhammad
Publication type:
Article
Functional Insights in PLS3-Mediated Osteogenic Regulation.
Published in:
Cells (2073-4409), 2024, v. 13, n. 17, p. 1507, doi. 10.3390/cells13171507
By:
- Zhong, Wenchao;
- Neugebauer, Janine;
- Pathak, Janak L.;
- Li, Xingyang;
- Pals, Gerard;
- Zillikens, M. Carola;
- Eekhoff, Elisabeth M. W.;
- Bravenboer, Nathalie;
- Zhang, Qingbin;
- Hammerschmidt, Matthias;
- Wirth, Brunhilde;
- Micha, Dimitra
Publication type:
Article
Exploration of the skeletal phenotype of the Col1a1<sup>+/Mov13</sup> mouse model for haploinsufficient osteogenesis imperfecta type 1.
Published in:
Frontiers in Endocrinology, 2023, v. 14, p. 01, doi. 10.3389/fendo.2023.1145125
By:
- Claeys, Lauria;
- Zhytnik, Lidiia;
- Wisse, Lisanne E.;
- van Essen, Huib W.;
- Eekhoff, E. Marelise W.;
- Pals, Gerard;
- Bravenboer, Nathalie;
- Micha, Dimitra
Publication type:
Article
Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study.
Published in:
Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.869604
By:
- Storoni, Silvia;
- Treurniet, Sanne;
- Maugeri, Alessandra;
- Pals, Gerard;
- van den Aardweg, Joost G.;
- van der Pas, Stéphanie L.;
- Elting, Mariet W.;
- Kloen, Peter;
- Micha, Dimitra;
- Eekhoff, Elisabeth Marelise W.
Publication type:
Article
Intracranial Hypertension in 2 Children With Marfan Syndrome.
Published in:
Journal of Child Neurology, 2008, v. 23, n. 8, p. 954, doi. 10.1177/0883073808315341
By:
- Hilhorst-Hofstee, Yvonne;
- Kroft, Lucia J. M.;
- Pals, Gerard;
- van Vugt, Jeroen P. P.;
- Overweg-Plandsoen, Wouterina C. G.
Publication type:
Article
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.
Published in:
Human Mutation, 2018, v. 39, n. 5, p. 653, doi. 10.1002/humu.23403
By:
- Paff, Tamara;
- Kooi, Irsan E.;
- Moutaouakil, Youssef;
- Riesebos, Elise;
- Sistermans, Erik A.;
- Daniels, Hans J. M. A.;
- Weiss, Janneke M. M.;
- Niessen, Hans H. W. M.;
- Haarman, Eric G.;
- Pals, Gerard;
- Micha, Dimitra
Publication type:
Article
Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.
Published in:
Human Mutation, 2017, v. 38, n. 4, p. 439, doi. 10.1002/humu.23174
By:
- Yeung, Kak K.;
- Bogunovic, Natalija;
- Keekstra, Niels;
- Beunders, Adriaan A.M.;
- Pals, Jorrit;
- Kuij, Kim;
- Overwater, Eline;
- Wisselink, Willem;
- Blankensteijn, Jan D.;
- Hinsbergh, Victor W.M.;
- Musters, Rene J.P.;
- Pals, Gerard;
- Micha, Dimitra;
- Zandieh‐Doulabi, Behrouz
Publication type:
Article
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
Published in:
Human Mutation, 2015, v. 36, n. 12, p. 1145, doi. 10.1002/humu.22854
By:
- Micha, Dimitra;
- Guo, Dong‐chuan;
- Hilhorst‐Hofstee, Yvonne;
- Kooten, Fop;
- Atmaja, Dian;
- Overwater, Eline;
- Cayami, Ferdy K.;
- Regalado, Ellen S.;
- Uffelen, René;
- Venselaar, Hanka;
- Faradz, Sultana M.H.;
- Vriend, Gerrit;
- Weiss, Marjan M.;
- Sistermans, Erik A.;
- Maugeri, Alessandra;
- Milewicz, Dianna M.;
- Pals, Gerard;
- Dijk, Fleur S.
Publication type:
Article
RNA Sequencing of Creatine Transporter ( SLC6 A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix.
Published in:
Human Mutation, 2014, v. 35, n. 9, p. 1128, doi. 10.1002/humu.22609
By:
- Nota, Benjamin;
- Ndika, Joseph D. T.;
- Kamp, Jiddeke M.;
- Kanhai, Warsha A.;
- Dooren, Silvy J. M.;
- Wiel, Mark A.;
- Pals, Gerard;
- Salomons, Gajja S.
Publication type:
Article
Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta.
Published in:
Human Mutation, 2012, v. 33, n. 12, p. 1697, doi. 10.1002/humu.22146
By:
- Valentina Gentile, Filomena;
- Zuntini, Monia;
- Parra, Alessandro;
- Battistelli, Luca;
- Pandolfi, Martina;
- Pals, Gerard;
- Sangiorgi, Luca
Publication type:
Article
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Published in:
Human Mutation, 2010, v. 31, n. 12, p. E1915, doi. 10.1002/humu.21372
By:
- Hilhorst-Hofstee, Yvonne;
- Rijlaarsdam, Marry EB;
- Scholte, Arthur JHA;
- Swart-van den Berg, Marietta;
- Versteegh, Michel IM;
- van der Schoot-van Velzen, Iris;
- Schäbitz, Hans-Joachim;
- Bijlsma, Emilia K;
- Baars, Marieke J;
- Kerstjens-Frederikse, Wilhelmina S;
- Giltay, Jacques C;
- Hamel, Ben C;
- Breuning, Martijn H;
- Pals, Gerard
Publication type:
Article
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
Published in:
Human Mutation, 2008, v. 29, n. 1, p. 159, doi. 10.1002/humu.20625
By:
- Ameziane, Najim;
- Errami, Abdellatif;
- Léveillé, France;
- Fontaine, Chantal;
- de Vries, Yne;
- van Spaendonk, Rosalina M.L.;
- de Winter, Johan P.;
- Pals, Gerard;
- Joenje, Hans
Publication type:
Article
Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.
Published in:
Human Mutation, 2006, v. 27, n. 2, p. 214, doi. 10.1002/humu.9402
By:
- Yates, Jane;
- Keeble, Winifred;
- Pals, Gerard;
- Ameziane, Najim;
- van Spaendonk, Rosalina;
- Olson, Susan;
- Akkari, Yassmine;
- Pasquini, Ricardo;
- Bagby, Grover
Publication type:
Article
TGFB1 gene polymorphisms and inflammatory bowel disease.
Published in:
Immunogenetics, 2000, v. 51, n. 10, p. 869, doi. 10.1007/s002510000211
By:
- García-González, M. Asunción;
- Crusius, J. Bart A.;
- Strunk, Mark H.P.;
- Bouma, Gerd;
- Pérez-Centeno, Cecilia M.;
- Pals, Gerard;
- Meuwissen, Stefan G.M.;
- Peña, A. Salvador
Publication type:
Article
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.
Published in:
Genes, 2022, v. 13, n. 3, p. 407, doi. 10.3390/genes13030407
By:
- Zhytnik, Lidiia;
- Duy, Binh Ho;
- Eekhoff, Marelise;
- Wisse, Lisanne;
- Pals, Gerard;
- Reimann, Ene;
- Kõks, Sulev;
- Märtson, Aare;
- Maugeri, Alessandra;
- Maasalu, Katre;
- Micha, Dimitra
Publication type:
Article

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