Results 151 to 160 of about 8,531 (188)

Hereditary retinoblastoma transmitted by maternal germline mosaicism

Pediatric Blood and Cancer, 2008
AbstractBackgroundInvestigating transmission of a constitutive, g78238C > T (R552X), RB1 mutation in four affected children descended from three different unaffected fathers and an unaffected mother.ProceduresSequence data analyses and allele‐specific PCR assays were used to investigate the presence of the mutation in four affected children, five ...
Hector Seuanez, Fernando R Vargas
exaly   +3 more sources

Paternal germline mosaicism in collagen VI related myopathies

European Journal of Paediatric Neurology, 2015
Collagen VI-related disorders are a group of muscular diseases characterized by muscle wasting and weakness, joint contractures, distal laxity, serious respiratory dysfunction and cutaneous alterations, due to mutations in the COL6A1, COL6A2 and COL6A3 genes, encoding for collagen VI, a critical component of the extracellular matrix. The severe Ullrich
Giacomo Brisca, Alessandra Ferlini, Francesca Gualandi   +2 more
exaly   +4 more sources

Paternal germline mosaicism in Herlitz junctional epidermolysis bullosa

Experimental Dermatology, 2002
Abstract: We studied a single patient with the lethal (Herlitz) type of junctional epidermolysis bullosa (H‐JEB). Screening for mutations in the LAMB3 gene in the patient revealed the previously described hotspot mutation R635X and a novel one basepair deletion in exon 10.
Peter B, Cserhalmi-Friedman, Kwame, Anyane-Yeboa, Angela M, Christiano   +2 more
exaly   +3 more sources

Case of the month: Germline mosaicism in carriers of duchenne muscular dystrophy

Muscle and Nerve, 1992
AbstractCarrier testing in a Duchenne muscular dystrophy (DMD) family resulted in the identification of a case of germline mosaicism. Using dystrophin cDNA probes, this phenomenon was ascertained by the demonstration of a deletion junction fragment present in the DNA of the affected patient and one sister but absent in the mother's DNA.
T W, Prior, A C, Papp, P J, Snyder, J R, Mendell   +3 more
exaly   +3 more sources

PGD for germline mosaicism

Reproductive BioMedicine Online, 2012
The aim of this study was to develop and perform a preimplantation genetic diagnosis (PGD) assay discriminating between wild-type and mutant alleles in two families with germline mosaicism. Family 1 had two children affected with severe myoclonic epilepsy (SCNA1A del exons 1-22).
Gheona, Altarescu, Rachel, Beeri, Talia, Eldar-Geva, Irit, Varshaver, Ehud J, Margalioth, Ephrat, Levy-Lahad, Paul, Renbaum   +6 more
openaire   +2 more sources

Germline mosaicism in Rubinstein–Taybi syndrome

Gene, 2013
Rubinstein-Taybi syndrome is an autosomal dominant disorder with multiple congenital anomalies and genetic heterogeneity. Clinical manifestations include mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and characteristic facial features.
Mariam, Tajir, Patricia, Fergelot, Guenaelle, Lancelot, Siham Chafai, Elalaoui, Benoit, Arveiler, Didier, Lacombe, Abdelaziz, Sefiani   +6 more
openaire   +2 more sources

Germline and somatic mosaicism in transgenic mice

Developmental Biology, 1986
Analysis of 262 transgenic mouse pedigrees suggests that about 30% of the mice produced by microinjection of plasmids into pronuclei are mosaic in the germline. This implies that in these lines integration of the foreign DNA occurred after the first round of chromosomal DNA replication. In mosaics resulting from delayed integration the transgenic cells
T M, Wilkie, R L, Brinster, R D, Palmiter   +2 more
openaire   +2 more sources

Germline mosaicism at the fragile X locus

American Journal of Medical Genetics, 1995
AbstractWe have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of 2 sons but was absent in the mother's somatic cell (lymphocyte) DNA. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic ...
T W, Prior, A C, Papp, P J, Snyder, M S, Sedra, M, Guida, B G, Enrile   +5 more
openaire   +2 more sources

Maternal germline mosaicism in Fabry disease

Neurological Sciences, 2019
Fabry disease (FD) is an X-linked monogenic disorder caused by mutations in the GLA gene which leads to a deficiency of the functionally active lysosomal α-galactosidase A enzyme. Here, we report on a family of five members: unaffected parents, one unaffected son, and another son and daughter both carrying the same mutation (p.G138E) in the GLA gene ...
Luigi Pianese, Antonio Fortunato, Serena Silvestri, Francesco G. Solano, Alberto Burlina, Alessandro P. Burlina, Michele Ragno   +6 more
openaire   +2 more sources