Search Results - "Farholt, Stense"

Management of a DAVF in a Patient with Loeys-Dietz Syndrome Type II by Dahl, Rasmus Holmboe, Farholt, Stense, Hauerberg, John, Poulsgaard, Lars, Benndorf, Goetz

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Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study by Ejerskov, Cecilie, Farholt, Stense, Nielsen, Flemming Secher Kromann, Berg, Ingunn, Thomasen, Stine Bogetofte, Udupi, Aparna, Ågesen, Trude, de Fine Licht, Sofie, Handrup, Mette Møller

“…Introduction Plexiform neurofibromas (PN) are benign nerve sheath tumours that are a frequent and potentially debilitating complication in patients with…”
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Zoledronate Increases Bone Mineral Density in Nonambulant Children With Cerebral Palsy: A Randomized Controlled Trial by Granild-Jensen, Jakob Bie, Møller-Madsen, Bjarne, Rackauskaite, Gija, Farholt, Stense, Søndergaard, Charlotte, Sørensen, Tine Høg, Vestergaard, Esben Thyssen, Langdahl, Bente Lomholt

“…Abstract Context Zoledronate appears to reduce fracture rates in children with cerebral palsy (CP), but no previous randomized, controlled trial has been…”
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Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome by Deal, Cheri L, Tony, Michèle, Höybye, Charlotte, Allen, David B, Tauber, Maïthé, Christiansen, Jens Sandahl, Ambler, Geoffrey R, Battista, Renaldo, Beauloye, Véronique, Berall, Glenn, Biller, Beverly M K, Butler, Merlin G, Cassidy, Suzanne B, Chihara, Kazuo, Cohen, Pinchas, Craig, Maria, Farholt, Stense, Goetghebeur, Mireille, Goldstone, Anthony P, Greggi, Tiziana, Grugni, Graziano, Hokken-Koelega, Anita C, Johannsson, Gudmundur, Johnson, Keegan, Kemper, Alex, Kopchick, John J, Malozowski, Saul, Miller, Jennifer, Mogul, Harriette R, Muscatelli, Françoise, Nergårdh, Ricard, Nicholls, Robert D, Radovick, Sally, Rosenthal, M Sara, Sipilä, Ilkka, Tarride, Jean-Eric, Vogels, Annick, Waters, Michael J

“…CONTEXT:Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been used by the medical community and advocated by parental support groups…”
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High Rate of Nasopharyngeal Carriage of Potential Pathogens Among Children in Greenland: Results of a Clinical Survey of Middle-Ear Disease by Homøe, Preben, Prag, Jørgen, Farholt, Stense, Henrichsen, Jørgen, Hornsleth, Allan, Kilian, Mogens, Jensen, Jørgen Skov

“…Nasopharyngeal and middle-ear colonization with bacteria and viruses, including Mycoplasma pneumoniae and chlamydiae, was investigated in a survey of 54…”
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Effects of Growth Hormone Treatment on Sleep-Related Parameters in Adults With Prader-Willi Syndrome by Shukur, Hasanain Hamid, Hussain-Alkhateeb, Laith, Farholt, Stense, Nørregaard, Ole, Jørgensen, Anders Palmstrøm, Hoybye, Charlotte

“…Abstract Context Prader-Willi syndrome (PWS) is a rare, genetic, multisymptom, neurodevelopmental disease due to lack of the expression of the paternal genes…”
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Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect by Gregersen, Pernille Axél, Hammarsjö, Anna, Graversen, Lise, Brix, Nis, Lindelöf, Hillevi, Jensen, Uffe Birk, Farholt, Stense, Rubak, Sune, Bjerre, Jesper, Piticchio, Serena G, Terkelsen, Thorkild, Nishimura, Gen, Hellfritzsch, Michel Bach, Grigelioniene, Giedre

“…The growth and development of the skeleton is regulated by bone morphogenetic proteins of which several are linked to genetic skeletal disorders. So far, no…”
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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature by Peluso, Francesca, Caraffi, Stefano G, Contrò, Gianluca, Valeri, Lara, Napoli, Manuela, Carboni, Giorgia, Seth, Alka, Zuntini, Roberta, Coccia, Emanuele, Astrea, Guja, Bisgaard, Anne-Marie, Ivanovski, Ivan, Maitz, Silvia, Brischoux-Boucher, Elise, Carter, Melissa T, Dentici, Maria Lisa, Devriendt, Koenraad, Bellini, Melissa, Digilio, Maria Cristina, Doja, Asif, Dyment, David A, Farholt, Stense, Ferreira, Carlos R, Wolfe, Lynne A, Gahl, William A, Gnazzo, Maria, Goel, Himanshu, Grønborg, Sabine Weller, Hammer, Trine, Iughetti, Lorenzo, Kleefstra, Tjitske, Koolen, David A, Lepri, Francesca Romana, Lemire, Gabrielle, Louro, Pedro, McCullagh, Gary, Madeo, Simona F, Milone, Annarita, Milone, Roberta, Nielsen, Jens Erik Klint, Novelli, Antonio, Ockeloen, Charlotte W, Pascarella, Rosario, Pippucci, Tommaso, Ricca, Ivana, Robertson, Stephen P, Sawyer, Sarah, Falkenberg Smeland, Marie, Stegmann, Sander, Stumpel, Constanze T, Goel, Amy, Taylor, Juliet M, Barbuti, Domenico, Soresina, Annarosa, Bedeschi, Maria Francesca, Battini, Roberta, Cavalli, Anna, Fusco, Carlo, Iascone, Maria, Van Maldergem, Lionel, Venkateswaran, Sunita, Zuffardi, Orsetta, Vergano, Samantha, Garavelli, Livia, Bayat, Allan

“…KBG syndrome is caused by haploinsufficiency of and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature,…”
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Cerebral palsy and bisphosphonates – and what can be learned from other types of secondary osteoporosis in children: A scoping review by Granild‐Jensen, Jakob B., Pedersen, Line K., Langdahl, Bente, Starup‐Linde, Jakob, Rackauskaite, Gija, Farholt, Stense, Søndergaard, Charlotte, Vestergaard, Esben T., Møller‐Madsen, Bjarne

“…Aim We aimed to improve bone health management of children with cerebral palsy (CP) by reviewing studies investigating bisphosphonate therapy in children with…”
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Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures by Sølyst, Sofus, Oksjoki, Riina, Farholt, Stense, Nielsen, Dorte Guldbrand, Christensen, Alex H., Fagerberg, Christina R., Risom, Lotte, Gregersen, Pernille Axél, Christensen, Maria Bejerholm, Rasmussen, Torsten Bloch, Diness, Birgitte Rode

“…The study describes all patients in Denmark with vascular Ehlers–Danlos syndrome (vEDS). Carriers of pathogenic or likely pathogenic COL3A1 variants were…”
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Management of a DAVF in a Patient with Loeys-Dietz Syndrome Type II: Case Report and Overview of the Literature by Dahl, Rasmus Holmboe, Farholt, Stense, Hauerberg, John, Poulsgaard, Lars, Benndorf, Goetz

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A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency by Lundquist, Alberte A., Farholt, Stense, Børresen, Malene L., Dunø, Morten, Wibrand, Flemming, Witting, Nanna, Østergaard, Elsebet

“…Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial disorder associated with variable penetrance and partial to full remission of…”
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Chlamydia pneumoniae in Children with Otitis Media by Storgaard, Merete, Østergaard, Lars, Jensen, Jørgen S., Farholt, Stense, Larsen, Knud, Ovesen, Therese, Nødgaard, Hanne, Andersen, Paul L.

“…In this study the polymerase chain reaction was used to test for the presence of Chlamydia pneumoniae DNA in 118 middle-ear aspirates from 20 children with…”
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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort by van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

“…Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally…”
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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort by van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

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B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient by Bolund, Anneli C.S., Langdahl, Bente, Laurberg, Trine B., Hellfritzsch, Michel B., Gjørup, Hans, Møller-Madsen, Bjarne, Nielsen, Trine Ø., Farholt, Stense, Gregersen, Pernille A.

“…Proteoglycans (PGs) are complex macromolecules consisting of a core protein and glycosaminoglycan (GAG) side chains. PGs are important for the constitution and…”
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Fracture Rates in Children with Cerebral Palsy: A Danish, Nationwide Register-Based Study by Granild-Jensen, Jakob Bie, Pedersen, Alma Becic, Kristiansen, Eskild Bendix, Langdahl, Bente, Moller-Madsen, Bjarne, Sondergaard, Charlotte, Farholt, Stense, Vestergaard, Esben Thyssen, Rackauskaite, Gija

“…Background: In children with cerebral palsy (CP), fracture rates have been reported to be higher than in the general population but age-specific fracture rates…”
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One Year of Growth Hormone Treatment in Adults with Prader-Willi Syndrome Improves Body Composition: Results from a Randomized, Placebo-Controlled Study by Sode-Carlsen, Rasmus, Farholt, Stense, Rabben, Kai Fr, Bollerslev, Jens, Schreiner, Thomas, Jurik, Anne Grethe, Christiansen, Jens Sandahl, Höybye, Charlotte

“…Context: Prader-Willi syndrome (PWS) is a multisymptomatic disease that shares many similarities with the GH deficiency syndrome, including altered body…”
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A descriptive study of colorectal function in adults with Prader-Willi Syndrome: high prevalence of constipation by Kuhlmann, Louise, Joensson, Iben Moeller, Froekjaer, Jens Broendum, Krogh, Klaus, Farholt, Stense

“…Some patients with Prader-Willi Syndrome (PWS) have symptoms of constipation, but bowel function in PWS has never been systematically evaluated. The aim of the…”
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Normal Cortisol Response to High-Dose Synacthen and Insulin Tolerance Test in Children and Adults with Prader-Willi Syndrome by Farholt, Stense, Sode-Carlsen, Rasmus, Christiansen, Jens Sandahl, Østergaard, John R, Høybye, Charlotte

“…Context: Prader-Willi syndrome (PWS) is a genetic disease associated with hypogonadism and partial GH insufficiency, possibly explained in part by a…”
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