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1.

Nosology of genetic skeletal disorders: 2023 revision.

Unger, Sheila; Ferreira, Carlos R; Mortier, Geert R; Ali, Houda; Bertola, Débora R; Calder, Alistair; Cohn, Daniel H; Cormier-Daire, Valerie; Girisha, Katta M; Hall, Christine; Krakow, Deborah; Makitie, Outi; Mundlos, Stefan; Nishimura, Gen; Robertson, Stephen P; Savarirayan, Ravi; Sillence, David; Simon, Marleen; Sutton, V Reid; Warman, Matthew L; Superti-Furga, Andrea.

Am J Med Genet A ; 191(5): 1164-1209, 2023 May.

Artículo en Inglés | MEDLINE | ID: mdl-36779427

2.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie, Sophia R; Wells, Constance F; Simon, Marleen; Wessels, Marja; Tang, Candy Z N; Wei, Wenhua; Takei, Riku; Aarts-Tesselaar, Coranne; Sandaradura, Sarah; Sillence, David O; Cordier, Marie-Pierre; Veenstra-Knol, Hermine E; Cassina, Matteo; Ludwig, Kathrin; Trevisson, Eva; Bahlo, Melanie; Markie, David M; Jenkins, Zandra A; Robertson, Stephen P.

Am J Hum Genet ; 102(6): 1115-1125, 2018 06 07.

Artículo en Inglés | MEDLINE | ID: mdl-29805041

3.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L.

N Engl J Med ; 377(6): 544-552, 2017 08 10.

Artículo en Inglés | MEDLINE | ID: mdl-28792876

4.

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Ewans, Lisa Jean; Colley, Alison; Gaston-Massuet, Carles; Gualtieri, Angelica; Cowley, Mark J; McCabe, Mark James; Anand, Deepti; Lachke, Salil A; Scietti, Luigi; Forneris, Federico; Zhu, Ying; Ying, Kevin; Walsh, Corrina; Kirk, Edwin P; Miller, David; Giunta, Cecilia; Sillence, David; Dinger, Marcel; Buckley, Michael; Roscioli, Tony.

J Med Genet ; 56(9): 629-638, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31129566

5.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaite, Zygimante; Bicknell, Louise S; Marsh, Joseph A; Murray, Jennie E; Parry, David A; Logan, Clare V; Bober, Michael B; de Silva, Deepthi C; Duker, Angela L; Sillence, David; Wise, Carol; Jackson, Andrew P; Murina, Olga; Reijns, Martin A M.

Hum Mutat ; 40(8): 1063-1070, 2019 08.

Artículo en Inglés | MEDLINE | ID: mdl-31045292

6.

Nosology and classification of genetic skeletal disorders: 2019 revision.

Mortier, Geert R; Cohn, Daniel H; Cormier-Daire, Valerie; Hall, Christine; Krakow, Deborah; Mundlos, Stefan; Nishimura, Gen; Robertson, Stephen; Sangiorgi, Luca; Savarirayan, Ravi; Sillence, David; Superti-Furga, Andrea; Unger, Sheila; Warman, Matthew L.

Am J Med Genet A ; 179(12): 2393-2419, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-31633310

7.

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

Munns, Craig F; Fahiminiya, Somayyeh; Poudel, Nabin; Munteanu, Maria Cristina; Majewski, Jacek; Sillence, David O; Metcalf, Jordan P; Biggin, Andrew; Glorieux, Francis; Fassier, François; Rauch, Frank; Hinsdale, Myron E.

Am J Hum Genet ; 96(6): 971-8, 2015 Jun 04.

Artículo en Inglés | MEDLINE | ID: mdl-26027496

8.

Kazimierz Stanislaw Kozlowski (19282022).

Sillence, David Owen.

Pediatr Radiol ; 53(8): 1728-1729, 2023 07.

Artículo en Inglés | MEDLINE | ID: mdl-37133534

9.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Ilkovski, Biljana; Pagnamenta, Alistair T; O'Grady, Gina L; Kinoshita, Taroh; Howard, Malcolm F; Lek, Monkol; Thomas, Brett; Turner, Anne; Christodoulou, John; Sillence, David; Knight, Samantha J L; Popitsch, Niko; Keays, David A; Anzilotti, Consuelo; Goriely, Anne; Waddell, Leigh B; Brilot, Fabienne; North, Kathryn N; Kanzawa, Noriyuki; Macarthur, Daniel G; Taylor, Jenny C; Kini, Usha; Murakami, Yoshiko; Clarke, Nigel F.

Hum Mol Genet ; 24(21): 6146-59, 2015 Nov 01.

Artículo en Inglés | MEDLINE | ID: mdl-26293662

10.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie, Sophia R; Wells, Constance F; Simon, Marleen; Wessels, Marja; Tang, Candy Z N; Wei, Wenhua; Takei, Riku; Aarts-Tesselaar, Coranne; Sandaradura, Sarah; Sillence, David O; Cordier, Marie-Pierre; Veenstra-Knol, Hermine E; Cassina, Matteo; Ludwig, Kathrin; Trevisson, Eva; Bahlo, Melanie; Markie, David M; Jenkins, Zandra A; Robertson, Stephen P.

Am J Hum Genet ; 105(3): 669, 2019 Sep 05.

Artículo en Inglés | MEDLINE | ID: mdl-31491409

11.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade, Emma M; Jenkins, Zandra A; Daniel, Philip B; Morgan, Tim; Addor, Marie C; Adés, Lesley C; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C M; Kim, Chong A; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E; Wieczorek, Dagmar; Wilson, Louise C; Markie, David M; Robertson, Stephen P.

Am J Med Genet A ; 173(7): 1739-1746, 2017 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-28498505

12.

Nosology and classification of genetic skeletal disorders: 2015 revision.

Bonafe, Luisa; Cormier-Daire, Valerie; Hall, Christine; Lachman, Ralph; Mortier, Geert; Mundlos, Stefan; Nishimura, Gen; Sangiorgi, Luca; Savarirayan, Ravi; Sillence, David; Spranger, Jürgen; Superti-Furga, Andrea; Warman, Matthew; Unger, Sheila.

Am J Med Genet A ; 167A(12): 2869-92, 2015 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-26394607

13.

Mutations in the TGFß binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Le Goff, Carine; Mahaut, Clémentine; Wang, Lauren W; Allali, Slimane; Abhyankar, Avinash; Jensen, Sacha; Zylberberg, Louise; Collod-Beroud, Gwenaelle; Bonnet, Damien; Alanay, Yasemin; Brady, Angela F; Cordier, Marie-Pierre; Devriendt, Koen; Genevieve, David; Kiper, Pelin Özlem Simsek; Kitoh, Hiroshi; Krakow, Deborah; Lynch, Sally Ann; Le Merrer, Martine; Mégarbane, André; Mortier, Geert; Odent, Sylvie; Polak, Michel; Rohrbach, Marianne; Sillence, David; Stolte-Dijkstra, Irene; Superti-Furga, Andrea; Rimoin, David L; Topouchian, Vicken; Unger, Sheila; Zabel, Bernhard; Bole-Feysot, Christine; Nitschke, Patrick; Handford, Penny; Casanova, Jean-Laurent; Boileau, Catherine; Apte, Suneel S; Munnich, Arnold; Cormier-Daire, Valérie.

Am J Hum Genet ; 89(1): 7-14, 2011 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-21683322

14.

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.

Bishop, Nick; Adami, Silvano; Ahmed, S Faisal; Antón, Jordi; Arundel, Paul; Burren, Christine P; Devogelaer, Jean-Pierre; Hangartner, Thomas; Hosszú, Eva; Lane, Joseph M; Lorenc, Roman; Mäkitie, Outi; Munns, Craig F; Paredes, Ana; Pavlov, Helene; Plotkin, Horacio; Raggio, Cathleen L; Reyes, Maria Loreto; Schoenau, Eckhard; Semler, Oliver; Sillence, David O; Steiner, Robert D.

Lancet ; 382(9902): 1424-32, 2013 Oct 26.

Artículo en Inglés | MEDLINE | ID: mdl-23927913

15.

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.

Lazarus, Syndia; McInerney-Leo, Aideen M; McKenzie, Fiona A; Baynam, Gareth; Broley, Stephanie; Cavan, Barbra V; Munns, Craig F; Pruijs, Johannes Egbertus Hans; Sillence, David; Terhal, Paulien A; Pryce, Karena; Brown, Matthew A; Zankl, Andreas; Thomas, Gethin; Duncan, Emma L.

BMC Musculoskelet Disord ; 15: 107, 2014 Mar 27.

Artículo en Inglés | MEDLINE | ID: mdl-24674092

16.

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Rohrbach, Marianne; Spencer, Helen L; Porter, Louise F; Burkitt-Wright, Emma M M; Bürer, Céline; Janecke, Andreas; Bakshi, Madhura; Sillence, David; Al-Hussain, Hailah; Baumgartner, Matthias; Steinmann, Beat; Black, Graeme C M; Manson, Forbes D C; Giunta, Cecilia.

Mol Genet Metab ; 109(3): 289-95, 2013 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-23680354

17.

The effect of height, weight and head circumference on gross motor development in achondroplasia.

Ireland, Penelope Jane; Ware, Robert S; Donaghey, Samantha; McGill, James; Zankl, Andreas; Pacey, Verity; Ault, Jenny; Savarirayan, Ravi; Sillence, David; Thompson, Elizabeth; Townshend, Sharron; Johnston, Leanne M.

J Paediatr Child Health ; 49(2): E122-7, 2013 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-23336715

18.

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Nizon, Mathilde; Huber, Céline; De Leonardis, Fabio; Merrina, Rodolphe; Forlino, Antonella; Fradin, Mélanie; Tuysuz, Beyhan; Abu-Libdeh, Bassam Y; Alanay, Yasemin; Albrecht, Beate; Al-Gazali, Lihadh; Basaran, Sarenur Yilmaz; Clayton-Smith, Jill; Désir, Julie; Gill, Harinder; Greally, Marie T; Koparir, Erkan; van Maarle, Merel C; MacKay, Sara; Mortier, Geert; Morton, Jenny; Sillence, David; Vilain, Catheline; Young, Ian; Zerres, Klaus; Le Merrer, Martine; Munnich, Arnold; Le Goff, Carine; Rossi, Antonio; Cormier-Daire, Valérie.

Hum Mutat ; 33(8): 1261-6, 2012 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-22539336

19.

IMPAD1 mutations in two Catel-Manzke like patients.

Nizon, Mathilde; Alanay, Yasemin; Tuysuz, Beyhan; Kiper, Pelin Ozlem Simsek; Geneviève, David; Sillence, David; Huber, Celine; Munnich, Arnold; Cormier-Daire, Valérie.

Am J Med Genet A ; 158A(9): 2183-7, 2012 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-22887726

20.

Upregulation of inward rectifying currents and Fabry disease neuropathy.

Geevasinga, Nimeshan; Tchan, Michel; Sillence, David; Vucic, Steve.

J Peripher Nerv Syst ; 17(4): 399-406, 2012 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-23279341

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Nosology of genetic skeletal disorders: 2023 revision.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Nosology and classification of genetic skeletal disorders: 2019 revision.

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

Kazimierz Stanislaw Kozlowski (19282022).

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Nosology and classification of genetic skeletal disorders: 2015 revision.

Mutations in the TGFß binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

The effect of height, weight and head circumference on gross motor development in achondroplasia.

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

IMPAD1 mutations in two Catel-Manzke like patients.

Upregulation of inward rectifying currents and Fabry disease neuropathy.