Results 71 to 80 of about 7,292 (198)

Nephrotic–Nephritic Syndrome Following Unilateral Nephrectomy in Wilms Tumour in a Child

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
Background Wilms tumour (WT) represents the most frequent kidney malignant tumour in the paediatric population and is occasionally linked to specific congenital syndromes. Treatment typically includes multimodal therapy consisting of chemotherapy, surgery and/or radiotherapy (RT), with a success rate of approximately 90%.
Rawshan Zuhair Jaber, Poorani Gurumallesh Prabu   +1 more
wiley   +1 more source

Conventional and molecular cytogenetic characterization of a Moroccan patient with WAGR syndrome

Egyptian Journal of Medical Human Genetics
Background WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is usually clinically associated with Wilms’ tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R).
Faiza Chbel, Hasna Hamdaoui, Houssein Mossafa, Karim Ouldim, Houda Benrahma   +4 more
doaj   +1 more source

Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia

Indian Journal of Ophthalmology, 2014
Progressive anterior segment fibrosis syndrome (ASFS), after intraocular surgery in older children (≥9 years) and adults with congenital aniridia, is described in the literature.
Mihir Kothari, Kavita Rao, Samita Moolani   +2 more
doaj   +1 more source

A Synthetic Transcriptional Activator of Genes Associated with the Retina in Human Dermal Fibroblasts. [PDF]

, 2015
Small molecules capable of modulating epigenetic signatures can activate the transcription of tissue-restricted genes in a totally unrelated cell type and have potential use in epigenetic therapy.
Bando, Toshikazu, Chandran, Anandhakumar, Hashiya, Kaori, Kashiwazaki, Gengo, Pandian, Ganesh N, Sato, Shinsuke, Sugiyama, Hiroshi, Syed, Junetha, Taniguchi, Junichi   +8 more
core   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. [PDF]

PLoS ONE, 2017
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases.
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton   +11 more
doaj   +1 more source

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome

Journal of the Peripheral Nervous System, Volume 30, Issue 4, December 2025.
ABSTRACT Background Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction.
Saif Haddad, Roy Poh, Jason Hehir, James M. Polke, Julian Blake, Mary M. Reilly   +5 more
wiley   +1 more source

Pax proteins in embryogenesis and their role in nervous system development [PDF]

, 2013
The mammalian Pax genes encode a family of transcription factors, which play important roles in embryonic development and organogenesis. During the central nervous system development Pax genes have substantial roles in neural differentiation and regional
Arend, Andres, Aunapuu, Marina, Namm, Aimar   +2 more
core   +3 more sources

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, Volume 75, Issue 6, Page 587-601, November/December 2025.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

A European perspective on auditory processing disorder-current knowledge and future research focus [PDF]

, 2017
Current notions of \u201chearing impairment,\u201d as reflected in clinical audiological practice, do not acknowledge the needs of individuals who have normal hearing pure tone sensitivity but who experience auditory processing difficulties in everyday ...
Bamiou, Doris-Eva, Barajas, Jose, Brechmann, Andr\ue3\ua9, Callimachou, Marina, Deggouj, Na\ue3\uafma, Demanez, Laurent, Grech, Helen, Hedjever, Mladen, Iliadou, Vasiliki, Kiese-Himmel, Christiane, Konukseven, Ozlem, Kuske, Sandra, Martins, Jorge Humberto, Mattsson, Tone Stokkereit, Nickisch, Andreas, Pedersen, Ellen Raben, Ptok, Martin, Santarelli, Rosamaria, Sirimanna, Tony, Sliwinska-Kowalska, Mariola, Thai-Van, Hung, Veraguth, Dorothy, Veuillet, Evelyne   +22 more
core   +7 more sources