Long‐term outcomes for females with early‐onset dystrophinopathy
Houwen‐van Opstal, Saskia L. S., Tak, Ramon O., Pelsma, Maaike, Heuvel, Frederik M. A., Duyvenvoorde, Hermine A., Cup, Edith H. C., Sie, Lilian T. L., Vles, Johan S. H., Groot, Imelda J. M., Voermans, Nicol C., Willemsen, Michel A. A. P.
Published in Developmental medicine and child neurology (01.08.2023)
Published in Developmental medicine and child neurology (01.08.2023)
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An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities
Hannema, Sabine E, van Duyvenvoorde, Hermine A, Premsler, Thomas, Yang, Ruey-Bing, Mueller, Thomas D, Gassner, Birgit, Oberwinkler, Heike, Roelfsema, Ferdinand, Santen, Gijs W. E, Prickett, Timothy, Kant, Sarina G, Verkerk, Annemieke J. M. H, Uitterlinden, André G, Espiner, Eric, Ruivenkamp, Claudia A. L, Oostdijk, Wilma, Pereira, Alberto M, Losekoot, Monique, Kuhn, Michaela, Wit, Jan M
Published in The journal of clinical endocrinology and metabolism (01.12.2013)
Published in The journal of clinical endocrinology and metabolism (01.12.2013)
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Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes
Weiss, Birgit, Eberle, Birgit, Roeth, Ralph, de Bruin, Christiaan, Lui, Julian C, Paramasivam, Nagarajan, Hinderhofer, Katrin, van Duyvenvoorde, Hermine A, Baron, Jeffrey, Wit, Jan M, Rappold, Gudrun A
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A novel variant of FGFR3 causes proportionate short stature
Kant, Sarina G, Cervenkova, Iveta, Balek, Lukas, Trantirek, Lukas, Santen, Gijs W E, de Vries, Martine C, van Duyvenvoorde, Hermine A, van der Wielen, Michiel J R, Verkerk, Annemieke J M H, Uitterlinden, André G, Hannema, Sabine E, Wit, Jan M, Oostdijk, Wilma, Krejci, Pavel, Losekoot, Monique
Published in European journal of endocrinology (01.06.2015)
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Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium
Fofanova-Gambetti, Olga V., Hwa, Vivian, Wit, Jan M., Domene, Horacio M., Argente, Jesús, Bang, Peter, Högler, Wolfgang, Kirsch, Susan, Pihoker, Catherine, Chiu, Harvey K., Cohen, Laurie, Jacobsen, Christina, Jasper, Hector G., Haeusler, Gabriele, Campos-Barros, Angel, Gallego-Gómez, Elena, Gracia-Bouthelier, Ricardo, van Duyvenvoorde, Hermine A., Pozo, Jesús, Rosenfeld, Ron G.
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
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Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
Domené, Horacio M., Hwa, Vivian, Argente, Jesús, Wit, Jan M., Camacho-Hübner, Cecilia, Jasper, Héctor G., Pozo, Jesús, van Duyvenvoorde, Hermine A., Yakar, Shoshana, Fofanova-Gambetti, Olga V., Rosenfeld, Ron G.
Published in Hormone research (01.01.2009)
Published in Hormone research (01.01.2009)
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Copy Number Variants in Short Children Born Small for Gestational Age
Wit, Jan M., van Duyvenvoorde, Hermine A., van Klinken, Jan B., Caliebe, Janina, Bosch, Cathy A.J., Lui, Julian C., Gijsbers, Antoinet C.J., Bakker, Egbert, Breuning, Martijn H., Oostdijk, Wilma, Losekoot, Monique, Baron, Jeffrey, Binder, Gerhard, Ranke, Michael B., Ruivenkamp, Claudia A.L.
Published in Hormone research in paediatrics (01.01.2014)
Published in Hormone research in paediatrics (01.01.2014)
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Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives
Synofzik, Matthis, van Roon-Mom, Willeke M C, Marckmann, Georg, van Duyvenvoorde, Hermine A, Graessner, Holm, Schüle, Rebecca, Aartsma-Rus, Annemieke
Published in Nucleic acid therapeutics (01.04.2022)
Published in Nucleic acid therapeutics (01.04.2022)
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Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor
Walenkamp, Marie J E, Robers, Jasmijn M L, Wit, Jan M, Zandwijken, Gladys R J, van Duyvenvoorde, Hermine A, Oostdijk, Wilma, Hokken-Koelega, Anita C S, Kant, Sarina G, Losekoot, Monique
Published in The journal of clinical endocrinology and metabolism (01.08.2019)
Published in The journal of clinical endocrinology and metabolism (01.08.2019)
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An XRCC4 Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome
de Bruin, Christiaan, Mericq, Verónica, Andrew, Shayne F, van Duyvenvoorde, Hermine A, Verkaik, Nicole S, Losekoot, Monique, Porollo, Aleksey, Garcia, Hernán, Kuang, Yi, Hanson, Dan, Clayton, Peter, van Gent, Dik C, Wit, Jan M, Hwa, Vivian, Dauber, Andrew
Published in The journal of clinical endocrinology and metabolism (01.05.2015)
Published in The journal of clinical endocrinology and metabolism (01.05.2015)
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Genetic Findings in Short Turkish Children Born to Consanguineous Parents
Joustra, Sjoerd D, Isik, Emregul, Wit, Jan M, Catli, Gonul, Anik, Ahmet, Haliloglu, Belma, Kandemir, Nurgun, Ozsu, Elif, Hendriks, Yvonne M C, de Bruin, Christiaan, Kant, Sarina G, Campos-Barros, Angel, Challis, Rachel C, Parry, David, Harley, Margaret E, Jackson, Andrew, Losekoot, Monique, van Duyvenvoorde, Hermine A
Published in Hormone research in paediatrics (05.06.2024)
Published in Hormone research in paediatrics (05.06.2024)
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An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature
Lauffer, Peter, Miranda-Laferte, Erick, van Duyvenvoorde, Hermine A, van Haeringen, Arie, Werner, Franziska, Boudin, Eveline, Schmidt, Hannes, Mueller, Thomas D, Kuhn, Michaela, van der Kaay, Daniëlle C M
Published in The journal of clinical endocrinology and metabolism (01.07.2020)
Published in The journal of clinical endocrinology and metabolism (01.07.2020)
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Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data
Renes, Judith S, Reedijk, Ardine M J, Losekoot, Monique, Kant, Sarina G, Van der Steen, Manouk, Van der Kaay, Danielle C M, Hokken-Koelega, Anita C S, Van Duyvenvoorde, Hermine A, de Bruin, Christiaan
Published in Hormone research in paediatrics (2024)
Published in Hormone research in paediatrics (2024)
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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy
Koopmann, Tamara T, Jamshidi, Yalda, Naghibi-Sistani, Mohammad, van der Klift, Heleen M, Birjandi, Hassan, Al-Hassnan, Zuhair, Alwadai, Abdullah, Zifarelli, Giovanni, Karimiani, Ehsan G, Sedighzadeh, Sahar, Bahreini, Amir, Nouri, Nayereh, Peter, Merlene, Watanabe, Kyoko, van Duyvenvoorde, Hermine A, Ruivenkamp, Claudia A L, Teunissen, Aalbertine K K, Ten Harkel, Arend D J, van Duinen, Sjoerd G, Haak, Monique C, Prada, Carlos E, Santen, Gijs W E, Maroofian, Reza
Published in European journal of human genetics : EJHG (01.01.2023)
Published in European journal of human genetics : EJHG (01.01.2023)
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TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy
Boschann, Felix, Stuurman, Kyra E., Bruin, Christiaan, Slegtenhorst, Marjon, Duyvenvoorde, Hermine A., Kant, Sarina G., Ehmke, Nadja
Published in American journal of medical genetics. Part A (01.03.2020)
Published in American journal of medical genetics. Part A (01.03.2020)
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Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1
Riquelme, Joel, Takada, Sanami, van Dijk, Tessa, Peña, Fernanda, Boogaard, Merel W, van Duyvenvoorde, Hermine A, Pico-Knijnenburg, Ingrid, Wit, Jan M, van der Burg, Mirjam, Mericq, Veronica, Losekoot, Monique
Published in Hormone research in paediatrics (2021)
Published in Hormone research in paediatrics (2021)
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Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
Berntsson, Shala Ghaderi, Matsson, Hans, Kristoffersson, Anna, Niemelä, Valter, van Duyvenvoorde, Hermine A., Richel-van Assenbergh, Cindy, van der Klift, Heleen M., Casar-Borota, Olivera, Frykholm, Carina, Landtblom, Anne-Marie
Published in Frontiers in genetics (19.09.2023)
Published in Frontiers in genetics (19.09.2023)
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The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience
Aartsma-Rus, Annemieke, De Waele, Liesbeth, Houwen-Opstal, Saskia, Kirschner, Janbernd, Krom, Yvonne D., Mercuri, Eugenio, Niks, Erik H., Straub, Volker, van Duyvenvoorde, Hermine A., Vroom, Elizabeth
Published in Journal of neuromuscular diseases (01.01.2023)
Published in Journal of neuromuscular diseases (01.01.2023)
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