Zobrazeno 1 - 10
of 46
pro vyhledávání: '"D Bakalinova"'
Publikováno v:
Clinical Genetics. 50:255-259
We report a consanguineous Arab Bedouin family with Desbuquois syndrome, an AR syndrome of a midface hypoplasia and joint laxity. We believe this is the first report of this syndrome in Arab Bedouins.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230f735a49e37fa2d63b165bd1013a49
https://doi.org/10.1111/j.1399-0004.1996.tb02639.x
https://doi.org/10.1111/j.1399-0004.1996.tb02639.x
Publikováno v:
Medical Principles and Practice. 8:237-240
Objective: To illustrate the development of chronic lung disease in an 11-year-old child with spondylo-meta-epiphyseal dysplasia-abnormal calcification type. Method: Historical review and radiological investigation by high resolution computerized tom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c8b1ee733ae727ce83cdcf54313d351
https://doi.org/10.1159/000026098
https://doi.org/10.1159/000026098
Publikováno v:
Annals of Tropical Paediatrics. 15:341-344
We describe a 7-year-old boy with Churg Strauss syndrome who presented with a 3-month history of cough, wheeze, fever, weight loss, abdominal pain, skin lesions, proteinuria and pulmonary infiltrates with eosinophilia. He showed a good response to co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eadd5e02e5e117ee8669bb2fb2d9332
https://doi.org/10.1080/02724936.1995.11747795
https://doi.org/10.1080/02724936.1995.11747795
Publikováno v:
Journal of Tropical Pediatrics. 45:158-160
Genotype-phenotype analyses in cystic fibrosis (CF) have shown that cystic fibrosis transmembrane conductance regulator (CFTR) genotypes can predict pancreatic status but that correlations with pulmonary status remain elusive. We investigated the ext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bab5760d0b490a4a97a56f6788dea60d
https://doi.org/10.1093/tropej/45.3.158
https://doi.org/10.1093/tropej/45.3.158
Autor:
K. P. Dawson, D. Bakalinova
Publikováno v:
Tropical Doctor. 27:151-153
We report our observations on the pattern of referral of children with chronic lung disease (CLD) in Al Ain, United Arab Emirates. In a 1-year period 45 children were seen with severe lung disease from an estimated childhood population of 90 000. Bro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b9abaa4b3b769b1624df952344edeae
https://doi.org/10.1177/004947559702700311
https://doi.org/10.1177/004947559702700311
Autor:
L I AL-Gazali, D Bakalinova
Publikováno v:
Clinical dysmorphology. 7(3)
We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28318a4322ca70e73a45fd70abad5dd0
https://pubmed.ncbi.nlm.nih.gov/9689990
https://pubmed.ncbi.nlm.nih.gov/9689990
Publikováno v:
Clinical dysmorphology. 7(2)
We report a baby with aprosencephaly, preaxial limb defect and ambiguous genitalia. This combination of abnormalities have been reported previously and constitute the XK aprosencephaly syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::402d085d7f554a40ac4ceee35a9816f3
https://pubmed.ncbi.nlm.nih.gov/9571288
https://pubmed.ncbi.nlm.nih.gov/9571288
Nevo syndrome is an autosomal recessive syndrome characterised by prenatal overgrowth, joint laxity, kyphosis, wrist drop, spindle shaped fingers, and volar oedema. Four children from two families have been reported previously. We report two further
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e4b02912f8598781b18041d313b9699
https://europepmc.org/articles/PMC1050942/
https://europepmc.org/articles/PMC1050942/
Publikováno v:
Pediatric neurology. 16(3)
The cranial magnetic resonance imaging findings in three siblings with nonrhizomelic chondrodysplasia punctata due to isolated dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency are reported. Areas of high signal intensity in a patchy dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce8a2f78a071755ac1b494cb53017f90
https://pubmed.ncbi.nlm.nih.gov/9165515
https://pubmed.ncbi.nlm.nih.gov/9165515
Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates
Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia. Two types have been recognised: the classical type with late infantile or childhood manifestation and a rarer form with neonatal manifestat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c762adaa23a17828c3911db05cfe8a1b
https://europepmc.org/articles/PMC1051868/
https://europepmc.org/articles/PMC1051868/