Zobrazeno 1 - 10
of 202
pro vyhledávání: '"S, Aftimos"'
Autor:
Jean-Pierre Fryns, S Aftimos
Publikováno v:
Journal of Medical Genetics. 37:460-463
Editor—We present the clinical histories and physical findings in two unrelated, severely mentally retarded males, now 14 and 11 years old. Patient 1, a male, was born as the second and youngest child of healthy, unrelated Flemish parents with norm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f7846e5454250c1110ad06b3b01583
https://doi.org/10.1136/jmg.37.6.460
https://doi.org/10.1136/jmg.37.6.460
Publikováno v:
Singapore medical journal. 52(7)
A five-year-old girl with global developmental delay and mild dysmorphic features was referred for karyotyping. Cytogenetic analysis identified an interstitial deletion in the approximate position of chromosome band 10q23.1. The patient's DNA was ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fdcfdbf7d705e117a21e56047063fab8
https://pubmed.ncbi.nlm.nih.gov/21808946
https://pubmed.ncbi.nlm.nih.gov/21808946
Publikováno v:
Genetics and molecular research : GMR. 9(3)
Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f71a9e904cc4030e69685d6f66f6c79e
https://pubmed.ncbi.nlm.nih.gov/20845307
https://pubmed.ncbi.nlm.nih.gov/20845307
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 99(5)
13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a6f2ec26eeeb48f3a7e2a3f4b5c62936
https://pubmed.ncbi.nlm.nih.gov/20105145
https://pubmed.ncbi.nlm.nih.gov/20105145
Akademický článek
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Autor:
T Y, Tan, S, Aftimos, L, Worgan, R, Susman, M, Wilson, S, Ghedia, E P, Kirk, D, Love, A, Ronan, A, Darmanian, A, Slavotinek, J, Hogue, J B, Moeschler, J, Ozmore, R, Widmer, Damien, Bruno, R, Savarirayan, G, Peters
Publikováno v:
Journal of medical genetics. 46(7)
Background: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and spe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c5b23badae5b2b9aca4b3ba1fa5b1c8
https://pubmed.ncbi.nlm.nih.gov/19447831
https://pubmed.ncbi.nlm.nih.gov/19447831
Publikováno v:
BJOG : an international journal of obstetrics and gynaecology. 107(12)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d47fb575e508a601a26b02cb918ec6d7
https://pubmed.ncbi.nlm.nih.gov/11192110
https://pubmed.ncbi.nlm.nih.gov/11192110
Autor:
C J, Wilson, S, Aftimos
Publikováno v:
American journal of medical genetics. 78(3)
X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transientl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::07c831f1241442049b5fdaf42ae46809
https://pubmed.ncbi.nlm.nih.gov/9677071
https://pubmed.ncbi.nlm.nih.gov/9677071
Publikováno v:
The New Zealand medical journal. 110(1045)
Aims of this paper were to carry out an audit of 105 extremely low birth weight infants at 18 months of age, identifying problems, disseminating the resulting information and providing a basis for future work.Children born in 1990-2 were classified i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::189d2fdc2c8efc881563362e6cd0c7d4
https://pubmed.ncbi.nlm.nih.gov/9216603
https://pubmed.ncbi.nlm.nih.gov/9216603
Autor:
S. Aftimos, Sharon H. Wang
Publikováno v:
Pediatric Radiology. 29:221-222
We report a newborn with partial monosomy 21, whose skeletal survey revealed strikingly abnormal clavicles.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c6466efb78a8aac9b5619bc7c0f51b
https://doi.org/10.1007/s002470050576
https://doi.org/10.1007/s002470050576