Results 101 to 110 of about 766 (133)

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome. [PDF]

Hum Genet
Soliman NA, Elmonem MA, El-Sayed AF, Ramadan E, Badr AM, Atia FM, Helmy R, Amer MO, El-Raouf AA, El-Garhy FM, Abdel-Haseb OM, Hassan TM, Farouk YK, El-Hosseiny A, Bakry U, Ali A, Saleeb S, Ghanim TA, Albarbary M, Elmahy A, Elnagdy T, Ragheb A, Hassan WA, Moustafa A, Amer K.   +24 more
europepmc   +1 more source

Keratitis-Icthyosis-Deafness (KID) Syndrome, case report

Nasza Dermatologia Online, 2017
openaire   +1 more source

Congenital ichthyosis (icthyosis lamellaris non bullosa) – therapy

Journal of Obstetrics and Gynaecology, 2020
Ichthyosis is a heterogeneous family of mostly genetic skin disorders. It includes a wide range of keratinising disorders with different aetiologies.
Miljana Zivojin Jovandaric
exaly   +4 more sources

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Harlequin icthyosis: report of one case

Archives of Gynecology and Obstetrics, 2009
Harlequin icthyosis is a rare extremely severe autosomal recessive dermatosis. The appearance of newborn can be shocking to parents and health care providers. Prenatal diagnosis is possible only with great suspicion and can often be missed. To our knowledge only 100 cases have been reported so far, we report one case of harlequin icthyosis.
Smiti Nanda, Meenakshi B Chauhan
exaly   +4 more sources

Icthyosis uteriA case report

American Journal of Obstetrics and Gynecology, 1962
W. T. Patton, G. Squires
exaly   +3 more sources

X-linked icthyosis and neurodevelopmental disorders: A case report and review of literature

Asian Journal of Psychiatry, 2017
The genetics of neurodevelopmental disorders have long intrigued clinicians and researchers alike. In this case report, we report a rare case of neurodevelopmental disorders associated with icthyosis with an underlying SHOX (short stature homeobox) gene mutation.
Sundar Gnanavel
exaly   +3 more sources

Harlequin icthyosis with empyema thoracis

Indian Journal of Pediatrics, 1986
The rarest and most severe form of icthyosis and its association wth empyema thoracis is reported from Central India.
K K Kaul
exaly   +4 more sources

Expert System diagnosis of icthyosis

Clinical and Experimental Dermatology, 1987
J L Alty
exaly   +4 more sources

Lethal arthrogryposis with icthyosis: overlap with Neu–Laxova syndrome, restrictive dermopathy and harlequin fetus

Clinical Dysmorphology, 2004
We describe a stillborn female with joint contractures, subcutaneous oedema, ectropion, a severely flattened nose, an 'O' shaped open mouth and extensive peeling of skin. The head circumference was normal.
Shubha R Phadke
exaly   +2 more sources

Acquired icthyosis: a paraneoplastic skin manifestation of Hodgkin's disease.

The Lancet Oncology, 2002
THE LANCET Oncology Vol 3 December 2002 http://oncology.thelancet.com 727 62 Spielmann M, Llombart A, Zelek L, et al. Docetaxelcisplatin combination (DC) chemotherapy in patients with anthracycline-resistant advanced breast cancer. Ann Oncol 1999; 10: 1457–60. 63 O’Shaughnessy J, Miles D, Vukelja S, et al.
E. Rizos, H. Milionis, N. Pavlidis, M. Elisaf   +3 more
semanticscholar   +4 more sources