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1.
001-es BibID:
BIBFORM119535
035-os BibID:
(Scopus)85188468637 (WoS)001186503100001
Első szerző:
Lacombe, Didier
Cím:
Diagnosis and management in Rubinstein-Taybi syndrome : first international consensus statement / Didier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou Houge, Sixto García-Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa Lopez Gonzalez, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A. Van der Zee, Maria M. Van Genderen, Julien Van-Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, Antonia H. M. Bouts, Anna M. Cueto-González, Elena Dominguez-Garrido, Floor A. Duijkers, Patricia Fergelot, Elisabeth Halstead, Sylvia A. Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N. Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C. M. Van Der Kaay, Michiel P. Van Wijk, Klea Vyshka, Susan Wiley, Raoul C. Hennekam
Dátum:
2024
ISSN:
0022-2593
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:
Journal Of Medical Genetics. - [Epub ahead of print] (2024). -
További szerzők:
Bloch-Zupan, Agnès
Bredrup, Cecilie
Cooper, Edward B.
Houge, Sofia Douzgou
García-Miñaúr, Sixto
Kayserili, Hülya
Larizza, Lidia
Lopez Gonzalez, Vanesa
Menke, Leonie A.
Milani, Donatella
Saettini, Francesco
Stevens, Cathy A.
Tooke, Lloyd
Zee, Jill A. Van der
Genderen, Maria M. Van
Van-Gils, Julien
Waite, Jane
Adrien, Jean-Louis
Bartsch, Oliver
Bitoun, Pierre
Bouts, Antonia H. M.
Cueto-González, Anna Maria
Dominguez-Garrido, Elena
Duijkers, Floor A.
Fergelot, Patricia
Halstead, Elisabeth
Huisman, Sylvia A.
Meossi, Camilla
Mullins, Jo
Nikkel, Sarah M.
Oliver, Chris
Prada, Elisabetta
Rei, Alessandra
Riddle, Ilka
Rodriguez-Fonseca, Cristina
Rodríguez Pena, Rebecca
Russell, Janet
Saba, Alicia
Santos-Simarro, Fernando
Simpson, Brittany N.
Smith, David F.
Stevens, Markus F.
Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus)
Taupiac, Emmanuelle
Totaro, Nadia
Valenzuena Palafoll, Irene
Kaay, Daniëlle C. M. Van Der
Wijk, Michiel P. Van
Vyshka, Klea
Wiley, Susan
Hennekam, Raoul C.
Internet cím:
Szerző által megadott URL
DOI
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Saját polcon:
2.
001-es BibID:
BIBFORM058577
Első szerző:
Maas, Saskia M.
Cím:
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome / Saskia M. Maas, Adam C. Shaw, Hennie Bikker, Hermann-Josef Lüdecke, Karin van der Tuin, Magdalena Badura-Stronka, Elga Belligni, Maria Teresa Bonati, Daniel R. Carvalho, JanMaarten Cobben, Stella A. de Man, Nicolette S. Den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos-Bielenska, Anneke Maat-Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian B. Ousager, Jacek Pilch, Astrid Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie Stumpel, Katalin Szakszon, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joke B.G.M. Verheij, Marcel M. Mannens, Raoul C. Hennekam
Dátum:
2015
ISSN:
1769-7212
Megjegyzések:
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype - phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals. TRPS I was present in 85 individuals (22 missense mutations, 62 other mutations), TRPS II in 14, and in 5 it remained uncertain whether TRPS1 was partially or completely deleted. Main features defining the facial phenotype include fine and sparse hair, thick and broad eyebrows, especially the medial portion, a broad nasal ridge and tip, underdeveloped nasal alae, and a broad columella. The facial manifestations in patients with TRPS I and TRPS II do not show a significant difference. In the limbs the main findings are short hands and feet, hypermobility, and a tendency for isolated metacarpals and metatarsals to be shortened. Nails of fingers and toes are typically thin and dystrophic. The radiological hallmark are the cone-shaped epiphyses and in TRPS II multiple exostoses. Osteopenia is common in both, as is reduced linear growth, both prenatally and postnatally. Variability for all findings, also within a single family, can be marked. Morbidity mostly concerns joint problems, manifesting in increased or decreased mobility, pain and in a minority an increased fracture rate. The hips can be markedly affected at a (very) young age. Intellectual disability is uncommon in TRPS I and, if present, usually mild. In TRPS II intellectual disability is present in most but not all, and again typically mild to moderate in severity. Missense mutations are located exclusively in exon 6 and 7 of TRPS1. Other mutations are located anywhere in exons 4-7. Whole gene deletions are common but have variable breakpoints. Most of the phenotype in patients with TRPS II is explained by the deletion of TRPS1 and EXT1, but haploinsufficiency of RAD21 is also likely to contribute. Genotype-phenotype studies showed that mutations located in exon 6 may have somewhat more pronounced facial characteristics and more marked shortening of hands and feet compared to mutations located elsewhere in TRPS1, but numbers are too small to allow firm conclusions.
Tárgyszavak:
Orvostudományok
Klinikai orvostudományok
idegen nyelvű folyóiratközlemény külföldi lapban
tricho-rhino-phalangeal syndrome
TRPS
Langer-Giedion syndrome
TRPS1
multiple exostoses
EXT1
RAD21
natural history
genotype
phenotype
review
Megjelenés:
European Journal Of Medical Genetics. - 58 : 5 (2015), p. 279-292. -
További szerzők:
Shaw, C. A.
Bikker, Hennie
Lüdecke, Hermann-Josef
Tuin, Karin van der
Badura-Stronka, Magdalena
Belligni, Elga
Bonati, Maria Teresa
Carvalho, Daniel R.
Cobben, JanMaarten
Man, Stella A. de
Hollander, Nicolette S. Den
Di Donato, Nataliya
Garavelli, Livia
Grønborg, Sabine
Herkert, Johanna C.
Hoogeboom, A. Jeannette M.
Jamsheer, Aleksander
Latos-Bielenska, Anna
Maat-Kievit, Anneke
Magnani, Cinzia
Marcelis, Carlo
Mathijssen, Inge B.
Nielsen, Maartje
Otten, Ellen
Ousager, Lilian B.
Pilch, Jacek
Plomp, Astrid
Poke, Gemma
Poluha, Anna
Posmyk, Renata
Rieubland, Claudine
Silengo, Margharita
Simon, Marleen
Steichen, Elisabeth
Stumpel, Connie
Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus)
Ende, Jenneke van den
Steen, Antony van der
Essen, Ton van
Haeringen, Arie van
Hagen, Johanna M. van
Verheij, Joke B.G.M.
Mannens, Marcel M.
Hennekam, Raoul C.
Internet cím:
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DOI
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