Results 121 to 130 of about 14,149 (242)

A cross-talk between DNA methylation and H3 lysine 9 dimethylation at the KvDMR1 region controls the induction of Cdkn1c in muscle cells [PDF]

, 2016
The cdk inhibitor p57kip2, encoded by the Cdkn1c gene, plays a critical role in mammalian development and in the differentiation of several tissues. Cdkn1c protein levels are carefully regulated via imprinting and other epigenetic mechanisms affecting ...
ANDRESINI, ORIELLA, BATTISTELLI, CECILIA, Carbone, Mariarosaria, CIOTTI, AGNESE, MAIONE, Rossella, ROSSI, MARIANNA NICOLETTA   +5 more
core   +1 more source

Beckwith-Wiedemann syndrome. [PDF]

Journal of Medical Genetics, 1994
M, Elliott, E R, Maher
openaire   +2 more sources

Glosectomía parcial en un paciente con el síndrome de Beckwith-Wiedemann

Revista Cubana de Estomatología, 1998
Se describe el caso de un niño de 12 años de edad con el síndrome de Beckwith-Wiedemann, cuyo signo relevante fue la macroglosia, entidad patológica que puede modificar severamente el desarrollo de los dientes, del esqueleto facial y ocasionar ...
Manuel Estrada Sarmiento
doaj  

Beckwith-Wiedemann Syndrome With Renal Agenesis

Turkish Journal of Nephrology, 2019
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İbrahim GÖKÇE, İzlem GÖÇMEN, Neşe KARAASLAN BIYIKLI, Serap TURAN, Harika ALPAY   +4 more
doaj  

The Igf2as Transcript is Exported into Cytoplasm and Associated with Polysomes [PDF]

, 2018
Murine insulin-like growth factor 2 antisense (Igf2as) transcripts originate from the opposite strand of the same Igf2 locus as the Igf2 sense mRNA. The Igf2, insulin 2 (Ins2), and H19 genes form a cluster of imprinted genes on chromosome 7.
Braunschweig, Martin, Duart-Garcia, Carolina   +1 more
core  

Prenatal diagnosis and hemodynamic evaluation of Klippel-Trenaunay-Weber syndrome. [PDF]

, 1998
CAPUANO P, D'ARMIENTO, MARIA, LAMBERTI A, LIGUORI M, MARTINELLI, PASQUALE, PALADINI, DARIO, TEODORO A   +6 more
core   +1 more source

Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.

American Journal of Human Genetics, 2003
M. DeBaun, E. Niemitz, A. Feinberg
semanticscholar   +1 more source

Clinical and Molecular Characteristics of Children with Beckwith-Wiedemann Syndrome and Isolated Hemihyperplasia at Sultan Qaboos University Hospital with their Surveillance Outcomes

Oman Medical Journal
Objectives: Beckwith-Wiedemann syndrome (BWS) is a rare genetic and cancer-predisposing disorder characterized by variable clinical and molecular abnormalities.
Ayat Sulayiam Al-Hinai, Almundher Al-Maawali, Adila Al-Kindi, Abeer Al-Saegh, Khalid Al-Thihli, Ghada A. Otaify   +5 more
doaj   +1 more source

Omphalocoeles: A decade in review

South African Journal of Child Health, 2016
Background. Omphalocoeles are associated with significant morbidity and mortality. The presentation varies greatly and management options differ accordingly. Limited literature exists regarding the varied presentation, associated congenital abnormalities
Simmi Singh, Anil Madaree
doaj  

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene [PDF]

, 2000
Mortier, Geert, Nuytinck, Lieve, Craen, Margarita, Renard, Jean-Pierre, Leroy, Juliaan, De Paepe, Anne   +5 more
core   +2 more sources