Results 91 to 100 of about 7,127 (212)
I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
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The human SOX18 gene: Expression analysis and characterization of its 5’ flanking region [PDF]
, 2007 The aim of this study was to establish an adequate in vitro model system for studying transcriptional regulation of the human SOX18 gene. The paper presents an analysis of expression of this gene in cultured cell lines and characterization of its 5 ...
Petrović Isidora, Stevanović Milena
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Case Reports in Dentistry, Volume 2025, Issue 1, 2025.Background Oral–Facial–Digital Syndrome Type 1 (OFD1) is a genetic disorder marked by diverse malformations of the oral cavity, face, and digits. Case This case report presents a female patient who was first referred to the Department of Pedodontics at Istanbul University at 18 months of age due to the absence of teeth in the upper molar region and who
Selin Saygili +2 more
wiley +1 more source
Skin changes in chronic lymphatic filariasis [PDF]
, 2017 Seventeen men and 31 women with unilateral lower limb lymphoedema attributed to chronic lymphatic filariasis were examined in the filarial out-patient clinic of the Government General Hospital, Madras, India.
Burri, Haran +3 more
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Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia [PDF]
, 2010 Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported.
Brice, G +11 more
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Ectodermal Dysplasia: Report and Analysis of Eleven South Indian Patients with Review of Literature
Journal of Indian Academy of Oral Medicine and Radiology, 2010 Ectodermal dysplasia represents a rare syndrome affecting two or more ectodermally derived structures. The condition is thought to occur in approximately 1 in every 100,000 live births.
Renuka Ammanagi +2 more
doaj
Hypohidrotic Ectodermal Dysplasia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chiranjit Ghosh +2 more
doaj +1 more source
A clinical and molecular characterisation of CRB1-associated maculopathy [PDF]
, 2018 To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa.
A Slavotinek +56 more
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Jefferson Digital Commons quarterly report: October-December 2019 [PDF]
, 2019 This quarterly report includes: Articles Dean\u27s Research Development Lunch Conference Dissertations Educational Materials From the Archives Grand Rounds and Lectures Journals and Newsletters Population Health Presentation Materials Posters Reports ...
Copeland, LIBT, James +2 more
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