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Intrauterine Fetal Death Due to Farber Disease: Case Report.
Published in:
Pediatric & Developmental Pathology, 2000, v. 3, n. 6, p. 597, doi. 10.1007/s100240010107
By:
- van Lijnschoten, Gesina;
- Groener, Johanna E.M.;
- Maas, Saskia M.;
- Ben-Yoseph, Yoav;
- Dingemans, Koert P.;
- Offerhaus, G. Johan A.
Publication type:
Article
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Published in:
Molecular Syndromology, 2023, v. 14, n. 4, p. 270, doi. 10.1159/000530256
By:
- Wurfbain, Lisca Florence;
- Cox, Inge Lucia;
- van Dooren, Maria Francisca;
- Lachmeijer, Augusta Maria Antonia;
- Verhoeven, Virginie Johanna Maria;
- van Hagen, Johanna Maria;
- Heijligers, Malou;
- Klein Wassink - Ruiter, Jolien Sietske;
- Koene, Saskia;
- Maas, Saskia Mariska;
- Veenstra - Knol, Hermine Elisabeth;
- Ploos van Amstel, Johannes Kristian;
- Massink, Maarten Pieter Gerrit;
- Mink van der Molen, Aebele Barber;
- van den Boogaard, Marie-José Henriette
Publication type:
Article
DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8001, doi. 10.3390/ijms23148001
By:
- Verberne, Eline A.;
- van der Laan, Liselot;
- Haghshenas, Sadegheh;
- Rooney, Kathleen;
- Levy, Michael A.;
- Alders, Mariëlle;
- Maas, Saskia M.;
- Jansen, Sandra;
- Lieden, Agne;
- Anderlid, Britt-Marie;
- Rafael-Croes, Louise;
- Campeau, Philippe M.;
- Chaudhry, Ayeshah;
- Koolen, David A.;
- Pfundt, Rolph;
- Hurst, Anna C. E.;
- Tran-Mau-Them, Frederic;
- Bruel, Ange-Line;
- Lambert, Laetitia;
- Isidor, Bertrand
Publication type:
Article
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 761, doi. 10.1007/s00439-024-02679-w
By:
- Vos, Niels;
- Haghshenas, Sadegheh;
- van der Laan, Liselot;
- Russel, Perle K. M.;
- Rooney, Kathleen;
- Levy, Michael A.;
- Relator, Raissa;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Maas, Saskia M.;
- Vissers, Lisenka E. L. M.;
- de Vries, Bert B. A.;
- Pfundt, Rolph;
- Elting, Mariet W.;
- van Hagen, Johanna M.;
- Verbeek, Nienke E.;
- Jongmans, Marjolijn C. J.;
- Lakeman, Phillis;
- Rumping, Lynne;
- Bosch, Danielle G. M.
Publication type:
Article
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3814, doi. 10.1002/ajmg.a.62417
By:
- Rumping, Lynne;
- Wessels, Marja W.;
- Postma, Alex V.;
- van Schuppen, Joost;
- van Slegtenhorst, Marjon A.;
- Saris, Jasper J.;
- van Tintelen, J. Peter;
- Robertson, Stephen P.;
- Alders, Mariëlle;
- Maas, Saskia M.;
- Deprez, Ronald H. Lekanne
Publication type:
Article
Variants in KAT6A and pituitary anomalies.
Published in:
2017
By:
- Zwaveling‐Soonawala, Nitash;
- Maas, Saskia M.;
- Alders, Marielle;
- Majoie, Charles B.;
- Fliers, Eric;
- van Trotsenburg, A. S. Paul;
- Hennekam, Raoul C. M.
Publication type:
Other
Nomenclature and definition in asymmetric regional body overgrowth.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
By:
- Kalish, Jennifer M.;
- Biesecker, Leslie G.;
- Brioude, Frederic;
- Deardorff, Matthew A.;
- Di Cesare‐Merlone, Alessandra;
- Druley, Todd;
- Ferrero, Giovanni B.;
- Lapunzina, Pablo;
- Larizza, Lidia;
- Maas, Saskia;
- Macchiaiolo, Marina;
- Maher, Eamonn R.;
- Maitz, Silvia;
- Martinez‐Agosto, Julian A.;
- Mussa, Alessandro;
- Robinson, Peter;
- Russo, Silvia;
- Selicorni, Angelo;
- Hennekam, Raoul C.
Publication type:
Article
Cover Image, Volume 173A, Number 7, July 2017.
Published in:
2017
By:
- Kalish, Jennifer M.;
- Biesecker, Leslie G.;
- Brioude, Frederic;
- Deardorff, Matthew A.;
- Di Cesare‐Merlone, Alessandra;
- Druley, Todd;
- Ferrero, Giovanni B.;
- Lapunzina, Pablo;
- Larizza, Lidia;
- Maas, Saskia;
- Macchiaiolo, Marina;
- Maher, Eamonn R.;
- Maitz, Silvia;
- Martinez‐Agosto, Julian A.;
- Mussa, Alessandro;
- Robinson, Peter;
- Russo, Silvia;
- Selicorni, Angelo;
- Hennekam, Raoul C.
Publication type:
Other
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2681, doi. 10.1002/ajmg.a.37800
By:
- Menke, Leonie A.;
- van Belzen, Martine J.;
- Alders, Marielle;
- Cristofoli, Francesca;
- Ehmke, Nadja;
- Fergelot, Patricia;
- Foster, Alison;
- Gerkes, Erica H.;
- Hoffer, Mariëtte J. V.;
- Horn, Denise;
- Kant, Sarina G.;
- Lacombe, Didier;
- Leon, Eyby;
- Maas, Saskia M.;
- Melis, Daniela;
- Muto, Valentina;
- Park, Soo‐Mi;
- Peeters, Hilde;
- Peters, Dorien J. M.;
- Pfundt, Rolph
Publication type:
Article
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2248, doi. 10.1002/ajmg.a.37801
By:
- Maas, Saskia M.;
- Vansenne, Fleur;
- Kadouch, Daniel J. M.;
- Ibrahim, Abdulla;
- Bliek, Jet;
- Hopman, Saskia;
- Mannens, Marcel M.;
- Merks, Johannes H. M.;
- Maher, Eamonn R.;
- Hennekam, Raoul C.
Publication type:
Article
Etiology and pathogenesis of robin sequence in a large Dutch cohort.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1983, doi. 10.1002/ajmg.a.37154
By:
- Basart, Hanneke;
- Paes, Emma C.;
- Maas, Saskia M.;
- van den Boogaard, Marie‐Jose H.;
- van Hagen, Johanna M.;
- Breugem, Corstiaan C.;
- Cobben, Jan Maarten;
- Don Griot, J. Peter W.;
- Lachmeijer, Augusta M. A.;
- Lichtenbelt, Klaske D.;
- van Nunen, Daan P. F.;
- van der Horst, Chantal M.;
- Hennekam, Raoul C.
Publication type:
Article
Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1215, doi. 10.1002/ajmg.a.37044
By:
- Basart, Hanneke;
- van de Kar, Annekatrien;
- Adès, Lesley;
- Cho, Tae‐Joon;
- Carter, Erin;
- Maas, Saskia M.;
- Wilson, Louise C.;
- van der Horst, Chantal M. A. M.;
- Wade, Emma M.;
- Robertson, Stephen P.;
- Hennekam, Raoul C.
Publication type:
Article
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
Published in:
2017
By:
- Zwaveling-Soonawala, Nitash;
- Alders, Marielle;
- Jongejan, Aldo;
- Kovacic, Lidija;
- Duijkers, Floor A;
- Maas, Saskia M;
- Fliers, Eric;
- van Trotsenburg, A S Paul;
- Hennekam, Raoul C
Publication type:
journal article
The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 2, p. E356, doi. 10.1210/jc.2010-1505
By:
- Kant, Sarina G.;
- van der Kamp, Hetty J.;
- Kriek, Marjolein;
- Bakker, Egbert;
- Bakker, Boudewijn;
- Hoffer, Mariette J. V.;
- van Bunderen, Patrick;
- Losekoot, Monique;
- Maas, Saskia M.;
- Wit, Jan M.;
- Rappold, Gudrun;
- Breuning, Martijn H.
Publication type:
Article
Evaluating International Diagnostic, Screening, and Monitoring Practices for Craniofacial Microsomia and Microtia: A Survey Study.
Published in:
Cleft Palate Craniofacial Journal, 2023, v. 60, n. 9, p. 1118, doi. 10.1177/10556656221093912
By:
- Ronde, Elsa M.;
- Nolte, Jitske W.;
- Kruisinga, Frea H.;
- Maas, Saskia M.;
- Lapid, Oren;
- Ebbens, Fenna A.;
- Becking, Alfred G.;
- Breugem, Corstiaan C.
Publication type:
Article
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2024, v. 210, n. 1, p. 63, doi. 10.1164/rccm.202308-1370OC
By:
- Dougherty, Gerard W.;
- Ostrowski, Lawrence E.;
- Nöthe-Menchen, Tabea;
- Raidt, Johanna;
- Schramm, Andre;
- Olbrich, Heike;
- Yin, Weining;
- Sears, Patrick R.;
- Dang, Hong;
- Smith, Amanda J.;
- Beule, Achim G.;
- Hjeij, Rim;
- Rutjes, Niels;
- Haarman, Eric G.;
- Maas, Saskia M.;
- Ferkol, Thomas W.;
- Noone, Peadar G.;
- Olivier, Kenneth N.;
- Bracht, Diana C.;
- Barbry, Pascal
Publication type:
Article
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Published in:
Human Genetics, 2020, v. 139, n. 5, p. 575, doi. 10.1007/s00439-020-02138-2
By:
- Krab, Lianne C.;
- Marcos-Alcalde, Iñigo;
- Assaf, Melissa;
- Balasubramanian, Meena;
- Andersen, Janne Bayer;
- Bisgaard, Anne-Marie;
- Fitzpatrick, David R.;
- Gudmundsson, Sanna;
- Huisman, Sylvia A.;
- Kalayci, Tugba;
- Maas, Saskia M.;
- Martinez, Francisco;
- McKee, Shane;
- Menke, Leonie A.;
- Mulder, Paul A.;
- Murch, Oliver D.;
- Parker, Michael;
- Pie, Juan;
- Ramos, Feliciano J.;
- Rieubland, Claudine
Publication type:
Article
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Published in:
Human Genetics, 2019, v. 138, n. 1, p. 61, doi. 10.1007/s00439-018-1965-1
By:
- DOOFNL Consortium;
- Beynon, Andy J.;
- Admiraal, Ronald J. C.;
- Lanting, Cornelis P.;
- Smits, Jeroen J.;
- Oostrik, Jaap;
- Pennings, Ronald J. E.;
- Kremer, Hannie;
- Schraders, Margit;
- Yntema, Helger G.;
- Kant, Sarina G.;
- de Koning Gans, Pia A. M.;
- Rotteveel, Liselotte J. C.;
- Klein Wassink-Ruiter, Jolien S.;
- Free, Rolien H.;
- Maas, Saskia M.;
- van de Kamp, Jiddeke;
- Merkus, Paul;
- Koole, Wouter;
- Feenstra, Ilse
Publication type:
Article
Opposite effects on facial morphology due to gene dosage sensitivity.
Published in:
Human Genetics, 2014, v. 133, n. 9, p. 1117, doi. 10.1007/s00439-014-1455-z
By:
- Hammond, Peter;
- McKee, Shane;
- Suttie, Michael;
- Allanson, Judith;
- Cobben, Jan-Maarten;
- Maas, Saskia;
- Quarrell, Oliver;
- Smith, Ann;
- Lewis, Suzanne;
- Tassabehji, May;
- Sisodiya, Sanjay;
- Mattina, Teresa;
- Hennekam, Raoul
Publication type:
Article
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Published in:
Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02189-1
By:
- Dingemans, Alexander J. M.;
- Truijen, Kim M. G.;
- van de Ven, Sam;
- Bernier, Raphael;
- Bongers, Ernie M. H. F.;
- Bouman, Arjan;
- de Graaff – Herder, Laura;
- Eichler, Evan E.;
- Gerkes, Erica H.;
- De Geus, Christa M.;
- van Hagen, Johanna M.;
- Jansen, Philip R.;
- Kerkhof, Jennifer;
- Kievit, Anneke J. A.;
- Kleefstra, Tjitske;
- Maas, Saskia M.;
- de Man, Stella A.;
- McConkey, Haley;
- Patterson, Wesley G.;
- Dobson, Amy T.
Publication type:
Article
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1625, doi. 10.1038/ejhg.2009.77
By:
- Bliek, Jet;
- Alders, Marielle;
- Maas, Saskia M.;
- Oostra, Roelof-Jan;
- Mackay, Deborah M;
- van der Lip, Karin;
- Callaway, Johnatan L.;
- Brooks, Alice;
- van 't Padje, Sandra;
- Westerveld, Andries;
- Leschot, Nico J.;
- Mannens, Marcel M. A. M.
Publication type:
Article
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 5, p. 611, doi. 10.1038/ejhg.2008.233
By:
- Bliek, Jet;
- Verde, Gaetano;
- Callaway, Jonathan;
- Maas, Saskia M.;
- De Crescenzo, Agostina;
- Sparago, Angela;
- Cerrato, Flavia;
- Russo, Silvia;
- Ferraiuolo, Serena;
- Rinaldi, Maria Michela;
- Fischetto, Rita;
- Lalatta, Faustina;
- Giordano, Lucio;
- Ferrari, Paola;
- Cubellis, Maria Vittoria;
- Larizza, Lidia;
- Temple, I. Karen;
- Mannens, Marcel M. A. M.;
- Mackay, Deborah J. G.;
- Riccio, Andrea
Publication type:
Article
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 8, p. 604, doi. 10.1038/sj.ejhg.5201199
By:
- Grzegorz M Burzynski;
- Ilja M Nolte;
- Jan Osinga;
- Isabella Ceccherini;
- Bas Twigt;
- Saskia Maas;
- Alice Brooks;
- Joke Verheij;
- Ivan Plaza Menacho;
- Charles Hcm Buys;
- Robert Mw Hofstra
Publication type:
Article
Expandable human cardiovascular progenitors from stem cells for regenerating mouse heart after myocardial infarction.
Published in:
Cardiovascular Research, 2020, v. 116, n. 3, p. 545, doi. 10.1093/cvr/cvz181
By:
- Schwach, Verena;
- Fernandes, Maria Gomes;
- Maas, Saskia;
- Gerhardt, Sophie;
- Tsonaka, Roula;
- van der Weerd, Louise;
- Passier, Robert;
- Mummery, Christine L;
- Birket, Matthew J;
- Salvatori, Daniela C F
Publication type:
Article
Epithelial-to-mesenchymal transformation alters electrical conductivity of human epicardial cells.
Published in:
Journal of Cellular & Molecular Medicine, 2011, v. 15, n. 12, p. 2675, doi. 10.1111/j.1582-4934.2011.01266.x
By:
- Bax, Noortje A. M.;
- Pijnappels, Daniël A.;
- van Oorschot, Angelique A. M.;
- Winter, Elizabeth M.;
- de Vries, Antoine A. F.;
- van Tuyn, John;
- Braun, Jerry;
- Maas, Saskia;
- Schalij, Martin J.;
- Atsma, Douwe E.;
- Goumans, Marie-José;
- Gittenberger-de Groot, Adriana C.
Publication type:
Article
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Published in:
Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01713-y
By:
- Mackay, Deborah J. G.;
- Gazdagh, Gabriella;
- Monk, David;
- Brioude, Frederic;
- Giabicani, Eloise;
- Krzyzewska, Izabela M.;
- Kalish, Jennifer M.;
- Maas, Saskia M.;
- Kagami, Masayo;
- Beygo, Jasmin;
- Kahre, Tiina;
- Tenorio-Castano, Jair;
- Ambrozaitytė, Laima;
- Burnytė, Birutė;
- Cerrato, Flavia;
- Davies, Justin H.;
- Ferrero, Giovanni Battista;
- Fjodorova, Olga;
- Manero-Azua, Africa;
- Pereda, Arrate
Publication type:
Article
Platelet-derived growth factor is involved in the differentiation of second heart field-derived cardiac structures in chicken embryos.
Published in:
Developmental Dynamics, 2009, v. 238, n. 10, p. 2658, doi. 10.1002/dvdy.22073
By:
- Bax, Noortje A.M.;
- Lie-Venema, Heleen;
- Vicente-Steijn, Rebecca;
- Bleyl, Steven B.;
- Van Den Akker, Nynke M.S.;
- Maas, Saskia;
- Poelmann, Robert E.;
- Gittenberger-de Groot, Adriana C.
Publication type:
Article
PDGF-B signaling is important for murine cardiac development: Its role in developing atrioventricular valves, coronaries, and cardiac innervation.
Published in:
Developmental Dynamics, 2008, v. 237, n. 2, p. 494, doi. 10.1002/dvdy.21436
By:
- Van den Akker, Nynke M.S.;
- Winkel, Leah C.J.;
- Nisancioglu, Maya H.;
- Maas, Saskia;
- Wisse, Lambertus J.;
- Armulik, Annika;
- Poelmann, Robert E.;
- Lie-Venema, Heleen;
- Betsholtz, Christer;
- Gittenberger-de Groot, Adriana C.
Publication type:
Article
Platelet-derived growth factors in the developing avian heart and maturating coronary vasculature.
Published in:
Developmental Dynamics, 2005, v. 233, n. 4, p. 1579, doi. 10.1002/dvdy.20476
By:
- Nynke M.S. Van Den Akker;
- Heleen Lie-Venema;
- Saskia Maas;
- Ismail Eralp;
- Marco C. DeRuiter;
- Robert E. Poelmann;
- Adriana C. Gittenberger-De Groot
Publication type:
Article
Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study.
Published in:
Human Reproduction, 2007, v. 22, n. 9, p. 2476, doi. 10.1093/humrep/dem172
By:
- Doornbos, Marianne E.;
- Maas, Saskia M.;
- McDonnell, Joseph;
- Vermeiden, Jan P. W.;
- Hennekam, Raoul C. M.
Publication type:
Article
Myocardial heterogeneity in permissiveness for epicardium-derived cells and endothelial precursor cells along the developing heart tube at the onset of coronary vascularization.
Published in:
Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2005, v. 282A, n. 2, p. 120, doi. 10.1002/ar.a.20154
By:
- Lie-Venema, Heleen;
- Eralp, Ismail;
- Maas, Saskia;
- Gittenberger-De Groot, Adriana C.;
- Poelmann, Robert E.;
- Deruiter, Marco C.
Publication type:
Article
Regulatory regions in the rat lactase-phlorizin hydrolase gene that control cell-specific expression.
Published in:
2004
By:
- Verhave, Menno;
- Krasinski, Stephen D.;
- Christian, Sara I.;
- Van Schaik, Sandrijn;
- van Den Brink, Gijs R.;
- Doting, Edwina M. H.;
- Maas, Saskia M.;
- Wolthers, Katja C.;
- Grand, Richard J.;
- Montgomery, Robert K.
Publication type:
journal article
The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1066, doi. 10.1002/ajmg.a.33991
By:
- Barge-Schaapveld, Daniela Q.C.M.;
- Maas, Saskia M.;
- Polstra, Abeltje;
- Knegt, Lia C.;
- Hennekam, Raoul C.M.
Publication type:
Article
Polyhydramnios in isolated oral cleft pregnancies: incidence and outcome in a retrospective study.
Published in:
2017
By:
- Depla, Anne L.;
- Breugem, Corstiaan C.;
- Horst, Chantal M. A. M.;
- Heus, Roel;
- Boogaard, Marie‐José H.;
- Maas, Saskia M.;
- Pajkrt, Eva;
- Bekker, Mireille N.
Publication type:
journal article
Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome.
Published in:
Human Mutation, 2013, v. 34, n. 3, p. 430, doi. 10.1002/humu.22252
By:
- Aten, Emmelien;
- Sun, Yu;
- Almomani, Rowida;
- Santen, Gijs W.E.;
- Messemaker, Tobias;
- Maas, Saskia M.;
- Breuning, Martijn H.;
- den Dunnen, Johan T.
Publication type:
Article
Hox gene expression in the specialized limbs of the Iberian mole ( Talpa occidentalis).
Published in:
Evolution & Development, 2017, v. 19, n. 1, p. 3, doi. 10.1111/ede.12216
By:
- Bickelmann, Constanze;
- van der Vos, Wessel;
- de Bakker, Merijn A. G.;
- Jiménez, Rafael;
- Maas, Saskia;
- Sánchez‐Villagra, Marcelo R.
Publication type:
Article
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 5, p. 467, doi. 10.1093/hmg/10.5.467
By:
- Bliek, Jet;
- Maas, Saskia M.;
- Ruijter, Jan M.;
- Hennekam, Raoul C.M.;
- Alders, Marielle;
- Westerveld, Andries;
- Mannens, Marcel M.A.M.
Publication type:
Article
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
Published in:
Clinical Obesity, 2024, v. 14, n. 4, p. 1, doi. 10.1111/cob.12661
By:
- Kleinendorst, Lotte;
- Abawi, Ozair;
- Vos, Niels;
- van der Valk, Eline S.;
- Maas, Saskia M.;
- Morgan, Angela T.;
- Hildebrand, Michael S.;
- Da Silva, Jorge D.;
- Florijn, Ralph J.;
- Lauffer, Peter;
- Visser, Jenny A.;
- van Rossum, Elisabeth F. C.;
- van den Akker, Erica L. T.;
- van Haelst, Mieke M.
Publication type:
Article
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14240, doi. 10.3390/ijms241814240
By:
- van der Laan, Liselot;
- Rooney, Kathleen;
- Haghshenas, Sadegheh;
- Silva, Ananília;
- McConkey, Haley;
- Relator, Raissa;
- Levy, Michael A.;
- Valenzuela, Irene;
- Trujillano, Laura;
- Lasa-Aranzasti, Amaia;
- Campos, Berta;
- Castells, Neus;
- Verberne, Eline A.;
- Maas, Saskia;
- Alders, Mariëlle;
- Mannens, Marcel M. A. M.;
- van Haelst, Mieke M.;
- Sadikovic, Bekim;
- Henneman, Peter
Publication type:
Article
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 418, doi. 10.1002/(SICI)1098-1004(200005)15:5<418::AID-HUMU3>3.0.CO;2-2
By:
- Hofstra, Robert M.W.;
- Wu, Ying;
- Stulp, Rein P.;
- Elfferich, Peter;
- Osinga, Jan;
- Maas, Saskia M.;
- Siderius, Liesbeth;
- Brooks, Alice S.;
- vd Ende, Jenneke J.;
- Heydendael, Vera M.R.;
- Severijnen, René S.V.M.;
- Bax, Klaas M.A.;
- Meijers, Carel;
- Buys, Charles H.C.M.
Publication type:
Article
In vitro epithelial-to-mesenchymal transformation in human adult epicardial cells is regulated by TGFβ-signaling and WT1.
Published in:
Basic Research in Cardiology, 2011, v. 106, n. 5, p. 829, doi. 10.1007/s00395-011-0181-0
By:
- Bax, Noortje;
- Oorschot, Angelique;
- Maas, Saskia;
- Braun, Jerry;
- Tuyn, John;
- Vries, Antoine;
- Groot, Adriana;
- Goumans, Marie-José
Publication type:
Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
By:
- Ben-Mahmoud, Afif;
- Kishikawa, Shotaro;
- Gupta, Vijay;
- Leach, Natalia T.;
- Shen, Yiping;
- Moldovan, Oana;
- Goel, Himanshu;
- Hopper, Bruce;
- Ranguin, Kara;
- Gruchy, Nicolas;
- Maas, Saskia M;
- Lacassie, Yves;
- Kim, Soo-Hyun;
- Kim, Woo-Yang;
- Quade, Bradley J.;
- Morton, Cynthia C.;
- Kim, Cheol-Hee;
- Layman, Lawrence C.;
- Kim, Hyung-Goo
Publication type:
Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
By:
- Ben-Mahmoud, Afif;
- Kishikawa, Shotaro;
- Gupta, Vijay;
- Leach, Natalia T.;
- Shen, Yiping;
- Moldovan, Oana;
- Goel, Himanshu;
- Hopper, Bruce;
- Ranguin, Kara;
- Gruchy, Nicolas;
- Maas, Saskia M;
- Lacassie, Yves;
- Kim, Soo-Hyun;
- Kim, Woo-Yang;
- Quade, Bradley J.;
- Morton, Cynthia C.;
- Kim, Cheol-Hee;
- Layman, Lawrence C.;
- Kim, Hyung-Goo
Publication type:
Article
Z-disc protein CHAPb induces cardiomyopathy and contractile dysfunction in the postnatal heart.
Published in:
PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189139
By:
- Van Eldik, Willemijn;
- Den Adel, Brigit;
- Monshouwer-Kloots, Jantine;
- Salvatori, Daniela;
- Maas, Saskia;
- Van Der Made, Ingeborg;
- Creemers, Esther E.;
- Frank, Derk;
- Frey, Norbert;
- Boontje, Nicky;
- Van Der Velden, Jolanda;
- Steendijk, Paul;
- Mummery, Christine;
- Passier, Robert;
- Beqqali, Abdelaziz
Publication type:
Article

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