Search Results - "MEHES, K"

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation by Kotzot, D, Schmitt, S, Bernasconi, F, Robinson, W P, Lurie, I W, Ilyina, H, Méhes, K, Hamel, B C, Otten, B J, Hergersberg, M

“…Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were…”
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Informative morphogenetic variants in patients with schizophrenia and alcohol-dependent patients: beyond the Waldrop Scale by TRIXLER, M, TENYI, T, CSABI, G, SZABO, G, MEHES, K

“…OBJECTIVE: The authors evaluated the presence or absence of informative morphogenetic variants in patients with schizophrenia compared with alcohol-dependent…”
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Increased prevalence of factor V Leiden mutation in neonatal intracranial haemorrhage by Melegh, B, Stankovics, J, Kis, A, Nagy, A, Storcz, J, Losonczy, H, Méhes, K

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Facial measurements in the newborn by Mehes, K

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Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome? by MEHES, K

“…A 4 year 9 month old boy and his 3 year 5 month old sister presented with delayed speech development, facial asymmetry, strabismus, and transverse ear lobe…”
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Umbilical venous catheterization and development of Banti syndrome: the possible role of the factor V Leiden mutation by Stankovics, J, Nagy, A, Méhes, K, Melegh, B

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Association of supernumerary nipples with other anomalies by Méhes, K

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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B by Méhes, Károly, Shannon, Nora, FitzPatrick, David, Reid, Sarah, Douglas, Jenny, Firth, Helen, Plaja, Alberto, Robin, Nathanial, Irrthum, Alexandre, Nash, Richard, Tolmie, John, Kidd, Alexa, Swansbury, John, Coleman, Kim, Hanks, Sandra, Rahman, Nazneen

“…Mosaic variegated aneuploidy is a rare recessive condition characterized by growth retardation, microcephaly, childhood cancer and constitutional mosaicism for…”
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Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency by Komlósi, K., Magyari, L., Talián, G. C., Nemes, É., Káposzta, R., Mogyorósy, G., Méhes, K., Melegh, B.

“…Summary The carnitine ester spectrum was studied using ESI tandem mass spectrometry in a 2.5-year-old male Roma child with homozygous deletion of 844C of the…”
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Association of supernumerary nipples with other anomalies by Méhes, K

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Association of supernumerary nipples with renal anomalies by Meggyessy, V, Méhes, K

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Inherited ring chromosomes : an analysis of published cases by KOSZTOLANYI, G, MEHES, K, HOOKE. B

“…A review of case reports on patients with ring chromosome revealed 30 individuals (plus two fetuses) who inherited the ring from a total of 23 carrier parents…”
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Physicians' attitudes regarding Down syndrome by Hermann, R, Méhes, K

“…We conducted a representative survey to obtain current information about attitudes of pediatricians, child neurologists, and pediatric surgeons in Hungary…”
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No latent chromosome damage in oxygen-exposed premature neonates by Méhes, K, Bajnóczky, K, Adamovich, K, Khezri, S, Kosztolányi, G

“…The possible effect of in vivo oxygen exposure on chromosomes was examined in lymphocyte cultures of 12 very-low-birthweight infants on the 1st, 8th, and 16th…”
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A possible mosaic form of delayed centromere separation and aneuploidy by MEHES, K, KOSZTALANYI, G

“…On average, a "normal" centromere separation sequence was seen in 3 neonates with trisomy 18 and in their parents. When evaluating individual mitoses,…”
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Malformations in children with cancer by Méhes, Károly

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Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype by Melegh, Béla, Bock, Ildikó, Gáti, István, Méhes, Károlu

“…In a newborn boy with characteristics of Brachmann‐de Lange syndrome (BDLS) high temperatures were observed on the second day after birth and recurred 2‐6…”
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Increased frequency of the C3F allele and the Leiden mutation of coagulation factor V in patients with severe coronary heart disease who survived myocardial infarction by Császár, A, Duba, J, Melegh, B, Kramer, J, Szalai, C, Prohászka, Z, Karádi, I, Kovács, M, Méhes, K, Romics, L, Füst, G

“…The aim of the present study was to compare the frequencies of the F allele of C3 complement component and the Leiden mutation of coagulation factor V in…”
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Head measurements in newborn infants by Méhes, K

“…Normal anthropometric standards for head length and head width expressed in absolute and index values were determined in 366 newborn infants born between 28…”
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Minor morphogenetic anomalies re cerebral palsy by Pinsky, L, Méhes, K

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