Results 1 to 10 of about 2,494 (91)
Uticaj aerozagađenja na karakteristike stominog i fotosintetičkog aparata vrsta Tilia cordata (Mill.) i Tilia platyphyllos (Scop.) na području grada Banje Luke [PDF]
Glasnik Šumarskog Fakulteta Univerziteta u Banjoj Luci, 2018 U ovom radu praćen je uticaj pojedinih polutanata na sadržaj fotosintetičkih pigmenata i broj i veličinu stominih ćelija kod Tilia cordata Mill. i Tilia platyphyllos Scop.
Nina Janjić, Tanja Maksimović
doaj +7 more sources
Diagnostics, 2023 Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes, and central nervous system (CNS). Mutations of the IKBKG gene are responsible for IP.
S. Minić +5 more
semanticscholar +1 more source
Case report: A case of incontinentia pigmenti
Frontiers in Medicine, 2023 Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by mutations in the IKBKG gene. We present a case of a 4-month-old female infant with erythematous vesicular skin lesions on the trunk and extremities.
L. Xie +8 more
semanticscholar +1 more source
Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases
Frontiers in Medicine, 2023 Incontinentia pigmenti (IP), an X-chromosome dominant genodermatosis caused by mutations in the IKBKG/NEMO gene, is a rare disease affecting the skin, teeth, eyes, and central nervous system. Here, we report two pedigrees of IP and detection of two novel
Huaqing Chen +5 more
semanticscholar +1 more source
A case of familial incontinentia pigmenti in infancy without hyperpigmented stage
Pediatric Investigation, 2023 FIGURE 1 Clinical presentations of the patient with incontinentia pigmenti and her mother, and the sequencing chromatogram of the family. (A–E) Clinical presentations of the proband.
Yumeng Wang +4 more
semanticscholar +1 more source
Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti
medRxiv, 2023 Background: Incontinentia pigmenti (IP) is a rare, hereditary multisystemic disorder affecting 1.2 in 100,000 live births, predominantly females. Conventional genetic analyses through short-read sequencing are complicated in case of IP due to the ...
Simone Ahting +7 more
semanticscholar +1 more source
Indian Journal of Paediatric Dermatology, 2023 Incontinentia pigmenti (IP) is a rare X-linked genodermatosis mostly occurring in females with the condition being fatal in males but certain mechanisms may allow survival of male subjects. We report a rare case of IP in a 19-day-old male patient with no
Raina Arora +3 more
semanticscholar +1 more source
Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
Frontiers in Pediatrics, 2022 Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (IKBKG) gene located at the Xq28 ...
K. N. How +5 more
semanticscholar +1 more source
BMC Pediatrics, 2022 Background Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG / NEMO gene. IP is mostly lethal in males in utero, and only very rare male cases with a somatic mosaic mutation or a 47,XXY karyotype have been
M. Kawai +4 more
semanticscholar +1 more source
Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with Heterozygous GBA Mutation
Diagnostics, 2022 Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases.
S. Minić +5 more
semanticscholar +1 more source