Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Hermine A van Duyvenvoorde"'
Autor:
Shala Ghaderi Berntsson, Hans Matsson, Anna Kristoffersson, Valter Niemelä, Hermine A. van Duyvenvoorde, Cindy Richel-van Assenbergh, Heleen M. van der Klift, Olivera Casar-Borota, Carina Frykholm, Anne-Marie Landtblom
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
We present the case of a male patient who was ultimately diagnosed with Becker muscular dystrophy (BMD; MIM# 300376) after the onset of muscle weakness in his teens progressively led to significant walking difficulties in his twenties. A genetic diag
Externí odkaz:
https://doaj.org/article/6fcf8f8bf0e6479fb4c92c4215f6da52
Autor:
Annemieke Aartsma-Rus, Liesbeth De Waele, Saskia Houwen-Opstal, Janbernd Kirschner, Yvonne D. Krom, Eugenio Mercuri, Erik H. Niks, Volker Straub, Hermine A. van Duyvenvoorde, Elizabeth Vroom
Publikováno v:
Journal of Neuromuscular Diseases. 10:315-325
Antisense oligonucleotide (ASO) mediated exon skipping aims to reframe dystrophin transcripts for patients with Duchenne muscular dystrophy (DMD). Currently 4 ASOs have been approved by the Food and Drug Administration targeting exon 45, 51 and 53 ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::135b30b6f089bee4ee4876f67526d973
https://doi.org/10.3233/jnd-221648
https://doi.org/10.3233/jnd-221648
Autor:
Birgit Weiss, Birgit Eberle, Ralph Roeth, Christiaan de Bruin, Julian C. Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A. van Duyvenvoorde, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk a
Externí odkaz:
https://doaj.org/article/085206a3981340ad9e5aca2df8e28d69
Autor:
Saskia L. S. Houwen‐van Opstal, Ramon O. Tak, Maaike Pelsma, Frederik M. A. van den Heuvel, Hermine A. van Duyvenvoorde, Edith H. C. Cup, Lilian T. L. Sie, Johan S. H. Vles, Imelda J. M. de Groot, Nicol C. Voermans, Michel A. A. P. Willemsen
Publikováno v:
Developmental Medicine and Child Neurology. Wiley
Developmental Medicine & Child Neurology, 65, 8, pp. 1093-1104
Developmental Medicine & Child Neurology, 65, 8, pp. 1093-1104
Contains fulltext : 294518.pdf (Publisher’s version ) (Open Access) AIM: To study long-term disease course for females with early-onset dystrophinopathy, including common (female) symptoms, challenges in social participation, the need for care, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dce50a160639a54afda80d0e245fdb0b
https://doi.org/10.1111/dmcn.15496
https://doi.org/10.1111/dmcn.15496
Autor:
Tamara T. Koopmann, Yalda Jamshidi, Mohammad Naghibi-Sistani, Heleen M. van der Klift, Hassan Birjandi, Zuhair Al-Hassnan, Abdullah Alwadai, Giovanni Zifarelli, Ehsan G. Karimiani, Sahar Sedighzadeh, Amir Bahreini, Nayereh Nouri, Merlene Peter, Kyoko Watanabe, Hermine A. van Duyvenvoorde, Claudia A. L. Ruivenkamp, Aalbertine K. K. Teunissen, Arend D. J. Ten Harkel, Sjoerd G. van Duinen, Monique C. Haak, Carlos E. Prada, Gijs W. E. Santen, Reza Maroofian
Publikováno v:
European Journal of Human Genetics, 31, 97-104. SPRINGERNATURE
Autosomal dominant variants in LDB3 (also known as ZASP), encoding the PDZ-LIM domain-binding factor, have been linked to a late onset phenotype of cardiomyopathy and myofibrillar myopathy in humans. However, despite knockout mice displaying a much m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af3fd1cb260d1f202ffaee8cd0bfa728
https://pubmed.ncbi.nlm.nih.gov/36253531
https://pubmed.ncbi.nlm.nih.gov/36253531
Autor:
Mirjam van der Burg, Monique Losekoot, Fernanda Pena, Merel W. Boogaard, Verónica Mericq, Sanami Takada, Jan M. Wit, Joel Riquelme, Ingrid Pico-Knijnenburg, Tessa van Dijk, Hermine A. van Duyvenvoorde
Publikováno v:
Hormone Research in Paediatrics, 94(11-12), 448-455. KARGER
Coats plus syndrome is an autosomal recessive multisystemic and pleiotropic disorder affecting the eyes, brain, bone, and gastrointestinal tract, usually caused by compound heterozygous variants of the conserved telomere maintenance component 1 gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::476963f4bd4af23c704bf336588affd4
https://doi.org/10.1159/000520410
https://doi.org/10.1159/000520410
Autor:
Nagarajan Paramasivam, Birgit Weiss, Birgit Eberle, Christiaan de Bruin, Jan M. Wit, Ralph Roeth, Katrin Hinderhofer, Jeffrey Baron, Hermine A van Duyvenvoorde, Julian C. Lui, Gudrun A. Rappold
Publikováno v:
Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinology, 12. FRONTIERS MEDIA SA
Frontiers in Endocrinology, Vol 12 (2021)
Frontiers in Endocrinology, 12. FRONTIERS MEDIA SA
Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa8b411d81dac424cf369f1593265d4
https://doi.org/10.3389/fendo.2021.660731
https://doi.org/10.3389/fendo.2021.660731
Autor:
Sjoerd Joustra, Hermine A. van Duyvenvoorde, Jan M. Wit, Christiaan de Bruin, Monique Losekoot
Publikováno v:
Hormone Research in Paediatrics, 94(3-4). KARGER
Hormone Research in Paediatrics
Hormone Research in Paediatrics
The current differential diagnosis for a short child with low insulin-like growth factor I (IGF-I) and a normal growth hormone (GH) peak in a GH stimulation test (GHST), after exclusion of acquired causes, includes the following disorders: (1) a decr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba895bc8047079ef7b9fa8b14c6b40db
https://pubmed.ncbi.nlm.nih.gov/34091447
https://pubmed.ncbi.nlm.nih.gov/34091447
Autor:
L. ten Dam, Anneke J. van der Kooi, Ieke B. Ginjaar, Hermine A. van Duyvenvoorde, M. de Visser, Silvana van Koningsbruggen
Publikováno v:
Journal of neuromuscular diseases, 8(2), 261-272. IOS Press
JOURNAL OF NEUROMUSCULAR DISEASES
JOURNAL OF NEUROMUSCULAR DISEASES, 8(2), 261-272. IOS PRESS
JOURNAL OF NEUROMUSCULAR DISEASES
JOURNAL OF NEUROMUSCULAR DISEASES, 8(2), 261-272. IOS PRESS
Background: A Dutch cohort of 105 carefully selected limb girdle muscular dystrophy (LGMD) patients from 68 families has been subject to genetic testing over the last 20 years. After subsequent targeted gene analysis around two thirds (45/68) of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b4ccea0f5ab76e1b55d53d7b5673149
https://pubmed.ncbi.nlm.nih.gov/33386810
https://pubmed.ncbi.nlm.nih.gov/33386810
Autor:
Hannes Schmidt, Hermine A van Duyvenvoorde, Franziska Werner, Eveline Boudin, Erick Miranda-Laferte, Michaela Kuhn, Peter Lauffer, Daniëlle C M van der Kaay, Arie van Haeringen, Thomas D. Mueller
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 105(7), 2354-2366. ENDOCRINE SOC
The journal of clinical endocrinology and metabolism
Journal of clinical endocrinology and metabolism, 105(7), 2354-2366. The Endocrine Society
The Journal of Clinical Endocrinology and Metabolism
The journal of clinical endocrinology and metabolism
Journal of clinical endocrinology and metabolism, 105(7), 2354-2366. The Endocrine Society
The Journal of Clinical Endocrinology and Metabolism
Context C-type natriuretic peptide (CNP) is critically involved in endochondral bone growth. Variants in the genes encoding CNP or its cyclic guanosine monophosphate (cGMP)-forming receptor (natriuretic peptide receptor-B [NPR-B], gene NPR2) cause mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00888a214051adc703531bc6576aac6f
http://hdl.handle.net/1887/3184930
http://hdl.handle.net/1887/3184930