Results 131 to 140 of about 58,220 (206)

Granulomatous fasciitis followed by morphea profunda: Is granulomatous fasciitis part of a spectrum of deep morphea? A case report and review of the literature. [PDF]

, 2018
Although eosinophilic fasciitis is known to be part of the deep morphea spectrum, this first report of the coexistence of granulomatous fasciitis and morphea profunda suggests that granulomatous fasciitis may also be a part of the spectrum of deep ...
Christensen, Angie, Di Loreto, Christina, Guma, Monica, Jones, Karra A, Paravar, Taraneh, Smitaman, Edward   +5 more
core   +1 more source

Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?

Clinical Epigenetics, 2018
Background Loss of paternal methylation (LOM) of the H19/IGF2 intergenic differentially methylated region (H19/IGF2:IG-DMR) causes alteration of H19/IGF2 imprinting and Silver-Russell syndrome (SRS).
Angela Sparago, Flavia Cerrato, Andrea Riccio   +2 more
doaj   +1 more source

Uniparental Disomy and Genomic Imprinting in Humans [PDF]

, 2017
Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans.
Schinzel, A.
core  

Barnes Hospital Bulletin [PDF]

, 1989
https://digitalcommons.wustl.edu/bjc_barnes_bulletin/1276/thumbnail ...

core   +1 more source

MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]

, 2011
Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Akihiro Yachie, Yo Niida
core   +1 more source

Barnes Hospital Bulletin [PDF]

, 1984
https://digitalcommons.wustl.edu/bjc_barnes_bulletin/1221/thumbnail ...

core   +1 more source

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

, 2014
Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 ...
Mackay, Deborah J.G., Poole, Rebecca L., Prescott, Trine, Rezwan, Faisal I., Temple, I. Karen, Walker, Joanna M.   +5 more
core   +1 more source

Neurodevelopmental Disorders Associated with Chromosome 15 [PDF]

, 2011
Chromosome 15 is a focus of increasing interest to both psychiatry and neurology. Several neurodevelopmental disorders are genetically associated with this autosome, including Prader-Willi syndrome, Angelman syndrome, Dyslexia, Autism, Hyperlexia, Ring ...
Sieg, M.D., Karl G.
core   +1 more source

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Nature Reviews Endocrinology, 2017
E. Wakeling, F. Brioude, O. Lokulo-Sodipe, S. O’Connell, J. Salem, J. Bliek, A. Canton, K. Chrzanowska, J. Davies, R. Dias, B. Dubern, M. Elbracht, É. Giabicani, A. Grimberg, K. Grønskov, A. Hokken-Koelega, A. Jorge, M. Kagami, A. Linglart, M. Maghnie, K. Mohnike, D. Monk, G. Moore, P. Murray, T. Ogata, I. Petit, S. Russo, E. Said, M. Toumba, Z. Tümer, G. Binder, T. Eggermann, M. Harbison, K. Temple, D. Mackay, I. Netchine   +35 more
semanticscholar   +1 more source

Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients

BMC Pediatrics
Background Imprinted genes, characterized by monoallelic expressions (either maternal or paternal), they are crucial for normal growth and development. Disruption of their monoallelic expressions leads to imprinting disorders (ImpDis).
Amal M. Mohamed, Ola Eid, Marwa Farid, Engy Ashaat, Ghada M. H. Abdel-Salam, Hala T. El-Bassyouni, Mahmoud Essa, Rana Mahrous, Peter S. F. Erian, Khaled M. Refaat, Alaaeldin Fayez, Maha Zaki   +11 more
doaj   +1 more source