Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Ph. Debeer"'
Publikováno v:
Clinical Dysmorphology. 7:225-228
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::943b4ebf496e7fc208f4c3e3f7843262
https://doi.org/10.1097/00019605-199807000-00014
https://doi.org/10.1097/00019605-199807000-00014
Autor:
K Devriendt, C.E.M. de Die-Smulders, Joris Vermeesch, Annick Toutain, J. P. Fryns, J Van Driessche, T. De Ravel, Ph. Debeer, Boyan Dimitrov
Publikováno v:
Journal of Medical Genetics, 47(2), 103-111. BMJ Publishing Group
BACKGROUND: The 10q24 chromosomal region has previously been implicated in split hand foot malformation (SHFM). SHFM3 was mapped to a large interval on chromosome 10q. The corresponding dactylaplasia mouse model was linked to the syntenic locus on ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::250b4c46f2024481f161fcbbcdb20fa9
https://doi.org/10.1136/jmg.2008.065888
https://doi.org/10.1136/jmg.2008.065888
Publikováno v:
Vaccine. 26(35)
We present a 19-year-old girl who developed a left brachial plexus neuritis following vaccination with a quadrivalent human papillomavirus (HPV) vaccine. Post-vaccination brachial plexus neuritis is a rare event. Nevertheless, this first case warrant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22d80b50b39422aa93ae4e470182ea92
https://pubmed.ncbi.nlm.nih.gov/18602437
https://pubmed.ncbi.nlm.nih.gov/18602437
Publikováno v:
Acta chirurgica Belgica. 105(5)
We report a case of periprosthetic fracture of the shoulder, treated operatively. A special plate/cable system (ECG) was used with an excellent outcome. This easy technique is recommended for such fractures.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ea69f40755c1ab3b57174118df57370
https://pubmed.ncbi.nlm.nih.gov/16315845
https://pubmed.ncbi.nlm.nih.gov/16315845
Autor:
L. De Smet, H Van Esch, W.J.M. Van de Ven, Ph. Debeer, C Huysmans, J. P. Fryns, E Pijkels, Koenraad Devriendt
Publikováno v:
European journal of medical genetics. 48(4)
Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder characterized by developmental anomalies of the face, the eyes, the limbs and the teeth. Patients with ODDD usually present with complete syndactyly of the fourth and fifth finger
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a32cff4a31484b356f533e79b4e56f4
https://pubmed.ncbi.nlm.nih.gov/16378922
https://pubmed.ncbi.nlm.nih.gov/16378922
Publikováno v:
Genetic counseling (Geneva, Switzerland). 15(1)
We present a boy with bilateral aplasia of the thumb, bilateral proximal radioulnar synostosis and unilateral fusion of metacarpals 4 and 5. Apart from a small, asymptomatic ASD, no other abnormalities were noted.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05202248e8cb2922ed11d888cfb756b0
https://pubmed.ncbi.nlm.nih.gov/15083702
https://pubmed.ncbi.nlm.nih.gov/15083702
Asymmetrical Larsen syndrome in a young girl: a second example of somatic mosaicism in this syndrome
Publikováno v:
Genetic counseling (Geneva, Switzerland). 14(1)
We describe another observation of asymmetrical Larsen syndrome. The unilateral manifestation of the typical skeletal defects indicates that this condition might be due to unilateral somatic cell-line mosaicism.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::578fcb33811eacae64c53086379a3699
https://pubmed.ncbi.nlm.nih.gov/12725593
https://pubmed.ncbi.nlm.nih.gov/12725593
Publikováno v:
Genetic counseling (Geneva, Switzerland). 13(4)
We report a female patient with unilateral absence of the trapezius and pectoralis major muscles without other associated limb abnormalities. We believe that this anomaly belongs to the spectrum of anomalies resulting from disruption of the blood sup
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df4c7d93938085c62f881d6d50a77c15
https://pubmed.ncbi.nlm.nih.gov/12558116
https://pubmed.ncbi.nlm.nih.gov/12558116
Publikováno v:
American journal of medical genetics. 111(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec438ddd9e2abe160bc55daed071f5ee
https://pubmed.ncbi.nlm.nih.gov/3631136
https://pubmed.ncbi.nlm.nih.gov/3631136
Publikováno v:
Acta orthopaedica Belgica. 68(3)
Recent advances in molecular biology have greatly helped in understanding the mechanisms involved in normal skeletal morphogenesis. Multiple genes involved in normal skeletal development have been identified, but several others still await discovery.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cee03723d9441991454e8a1762594480
https://pubmed.ncbi.nlm.nih.gov/12152367
https://pubmed.ncbi.nlm.nih.gov/12152367