نتایج جستجو برای: incontinentia pigmenti

تعداد نتایج: 2047  

1997

In the United States 1.4 million children were maltreated in 1988, resulting in an estimated 2000 to 5000 deaths.1 Largely due to the rising awareness and sensitivity to the horrors of child abuse, the number of deaths declined to approximately 1500 in 1993.2 Guidelines have been published to aid in the identification and management of child maltreatment,3 and reporting of all suspicious cases ...

1997

In the United States 1.4 million children were maltreated in 1988, resulting in an estimated 2000 to 5000 deaths.1 Largely due to the rising awareness and sensitivity to the horrors of child abuse, the number of deaths declined to approximately 1500 in 1993.2 Guidelines have been published to aid in the identification and management of child maltreatment,3 and reporting of all suspicious cases ...

Journal: :Proceedings of the Royal Society of Medicine 1969

Journal: :Indian Journal of Ophthalmology 2019

Journal: :Neurology India 2009
Neeraj N Baheti Ajith Cherian Mahesh Kate Syam Krishnan Bejoy Thomas

1. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53-9. 2. Pinheiro A, Mathew MC, Thomas M, Jacob M, Srivastava VM, Cherian R, et al. The clinical profile of children in India with pigmentary anomalies along the lines of Blaschko and central nervous system manifestations. Pediatr Dermatol 2007;24:11-7. 3. Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Te...

Journal: :The Australasian journal of dermatology 2016
Bryan Edgar K Guevara Chao-Kai Hsu Lu Liu Alice Feast Karen Lee P Alabado Maricarr Pamela M Lacuesta Julia Yu-Yun Lee John A McGrath

Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique althoug...

Journal: :European Journal of Pediatrics 2013

Journal: :Developmental Medicine & Child Neurology 2009

Journal: :Güncel retina 2023

Incontinentia pigmenti is a very rare X-linked dominant inherited disease characterized by skin lesions, retinal pathologies, central nervous system anomalies, and dental problems. Norrie recessive severe vitreoretinal dysplasia in both eyes at birth. In diseases, patients can apply to the clinic with nystagmus, leukocoria, microphthalmia, detachment an early age. this review, disease, which ar...

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