[PDF][PDF] A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region
K Hannula, M Lipsanen-Nyman, T Kontiokari… - The American Journal of …, 2001 - cell.com
Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both
chromosomes from only the mother, is observed in∼ 10% of patients with Silver-Russell …
chromosomes from only the mother, is observed in∼ 10% of patients with Silver-Russell …
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
K Hannula, J Kere, S Pirinen, C Holmberg… - Journal of Medical …, 2001 - jmg.bmj.com
E ditor—Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth
retardation (IUGR), postnatal short stature, asymmetry of the face, body, and limbs, short and …
retardation (IUGR), postnatal short stature, asymmetry of the face, body, and limbs, short and …
A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain
Approximately 3–10% of people have specific difficulties in reading, despite adequate
intelligence, education, and social environment. We report here the characterization of a …
intelligence, education, and social environment. We report here the characterization of a …
[HTML][HTML] The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia
K Hannula-Jouppi, N Kaminen-Ahola, M Taipale… - PLoS …, 2005 - journals.plos.org
Dyslexia, or specific reading disability, is the most common learning disorder with a
complex, partially genetic basis, but its biochemical mechanisms remain poorly understood …
complex, partially genetic basis, but its biochemical mechanisms remain poorly understood …
[PDF][PDF] Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug… - The American Journal of …, 2006 - cell.com
Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases
have been described. We characterize 13 patients with DVD—5 with hemizygous paternal …
have been described. We characterize 13 patients with DVD—5 with hemizygous paternal …
[HTML][HTML] The mutation spectrum in RECQL4 diseases
HA Siitonen, J Sotkasiira, M Biervliet… - European journal of …, 2009 - nature.com
Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping
features. All these syndromes, Rothmund–Thomson (RTS), RAPADILINO and Baller–Gerold …
features. All these syndromes, Rothmund–Thomson (RTS), RAPADILINO and Baller–Gerold …
A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32
N Kaminen, K Hannula-Jouppi, M Kestilä… - Journal of medical …, 2003 - jmg.bmj.com
Developmental dyslexia is a distinct learning disability with unexpected difficulty in learning
to read despite adequate intelligence, education, and environment, and normal senses. The …
to read despite adequate intelligence, education, and environment, and normal senses. The …
Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree of H19 Hypomethylation Associates with Phenotype Severity and Genital and …
S Bruce, K Hannula-Jouppi, J Peltonen… - The Journal of …, 2009 - academic.oup.com
Context: The H19 imprinting control region (ICR), located on chromosome 11p15. 5, has
been reported hypomethylated in 20–65% of Silver-Russell syndrome (SRS) patients …
been reported hypomethylated in 20–65% of Silver-Russell syndrome (SRS) patients …
[PDF][PDF] Monoallelic mutations in the translation initiation codon of KLHL24 cause skin fragility
Y He, K Maier, J Leppert, I Hausser… - The American Journal of …, 2016 - cell.com
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by
the mechanically induced formation of skin blisters, is largely known, but a number of cases …
the mechanically induced formation of skin blisters, is largely known, but a number of cases …
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause
K Hannula, M Lipsanen-Nyman, P Kristo, I Kaitila… - …, 2002 - publications.aap.org
Objective. Many short-statured children lack an etiologic explanation for their retarded
growth. Recently, uniparental disomy (UPD), the inheritance of both chromosomes of a …
growth. Recently, uniparental disomy (UPD), the inheritance of both chromosomes of a …