Search Results - "ORMEROD, Eli"

X-Linked Congenital Adrenal Hypoplasia with Hypogonadotropic Hypogonadism Caused by an Inversion Disrupting a Conserved Noncoding Element Upstream of the NR0B1 (DAX1) Gene by Skinningsrud, Beate, Husebye, Eystein S., Gilfillan, Gregor D., Frengen, Eirik, Erichsen, Aage, Gervin, Kristina, Ormerod, Eli, Egeland, Thore, Undlien, Dag E.

“…Context: X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism (AHCH) is known to be caused by coding mutations in the nuclear receptor…”
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15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q by Tatton-Brown, Katrina, Pilz, Daniela T., Örstavik, Karen Helene, Patton, Michael, Barber, John C.K., Collinson, Morag N., Maloney, Vivienne K., Huang, Shuwen, Crolla, John A., Marks, Karen, Ormerod, Eli, Thompson, Peter, Nawaz, Zafar, Lese-Martin, Christa, Tomkins, Susan, Waits, Paula, Rahman, Nazneen, McEntagart, Meriel

“…Trisomy and tetrasomy of distal chromosome 15q have rarely been reported. Although most of the described patients have some learning difficulties and are…”
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Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother by Misceo, Doriana, Ørstavik, Karen Helene, Lybæk, Helle, Sandvig, Inger, Ormerod, Eli, Houge, Gunnar, Frengen, Eirik

“…First page of article…”
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X-Linked Congenital Adrenal Hypoplasia with Hypogonadotropic Hypogonadism Caused by an Inversion Disrupting a Conserved Noncoding Element Upstream of the NROB1 (DAX1) Gene by SKINNINGSRUD, Beate, HUSEBYE, Eystein S, GILFILLAN, Gregor D, FRENGEN, Eirik, ERICHSEN, Aage, GERVIN, Kristina, ORMEROD, Eli, EGELAND, Thore, UNDLIEN, Dag E

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A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient by Misceo, Doriana, Bjørgo, Kathrine, Ormerod, Eli, Ringen, Øyvind, Rocchi, Mariano, van der Hagen, Carl Birger, Frengen, Eirik

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Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene by Ørstavik, Karen Helene, Knudsen, Gun Peggy S., Nordgarden, Hilde, Ormerod, Eli, Strømme, Petter, Lazarou, Lazarous P., Rosser, Lyndon G., Prescott, Trine, Houge, Gunnar

“…X‐linked hypohidrotic ectodermal dysplasia (XLHED) is caused by mutations in the EDA gene. A girl with severe hypohidrotic ectodermal dysplasia and normal…”
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nm23 protein expression in fine-needle aspirates from breast carcinoma: Inverse correlation with cytologic grading, lymph node status, and ploidy by SAUER, T, FURU, I, BERAKI, K, JEBSEN, P. W, ORMEROD, E, NESS, O

“…nm23 has been recognized as a potential suppressor gene of metastasis. Reduced nm23 expression in breast carcinoma has been found to correlate with axillary…”
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nm23 protein expression in fine‐needle aspirates from breast carcinoma by Sauer, Torill, Furu, Irene, Beraki, Kahsai, Jebsen, Peter Wilhelm, Ormerod, Eli, Næss, Oddvar

“…BACKGROUND nm23 has been recognized as a potential suppressor gene of metastasis. Reduced nm23 expression in breast carcinoma has been found to correlate with…”
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The heterogeneity of craniofacial morphology in Prader-Willi patients by Belengeanu, D, Bratu, Cristina, Stoian, Monica, Motoc, A, Ormerod, Eli, Podariu, Angela Codruţa, Farcaş, Simona, Andreescu, Nicoleta

“…Prader-Willi syndrome is a complex genetic disorder with narrow spectrum of facial phenotypic signs, which make the clinical diagnosis difficult in some cases…”
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Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome by Orstavik, K H, McFadden, N, Hagelsteen, J, Ormerod, E, van der Hagen, C B

“…Rothmund-Thomson syndrome is a rare autosomal recessive syndrome characterised by poikiloderma of the face and extremities, alopecia, short stature, and…”
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Numerical aberrations of chromosome 17 in interphase cell nuclei of breast carcinoma cells: lack of correlation with abnormal expression of p53, neu and nm23 protein by SAUER, TORILL, BERAKI, KAHSAI, JEBSEN, PETER W., ORMEROD, ELI, NÆSS, ODDVAR

“…The genes for p53, neu (c‐erbB‐2) and nm23 are all located on chromosome 17. Abnormal expression of their protein products is an important prognostic…”
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Ploidy analysis by in situ hybridization of interphase cell nuclei in fine-needle aspirates from breast carcinomas: Correlation with cytologic grading by Sauer, Torill, Beraki, Kahsai, Jebsen, Peter Wilhelm, Ormerod, Eli, Naess, Oddvar

“…Fine‐needle aspirates from 54 breast cancer patients were investigated for numeric aberrations in chromosomes 6, 7, 12, and 17 by in situ hybridization (ISH)…”
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Estimating loss of the wild-type p53 gene by in situ hybridization of fine-needle aspirates from breast carcinomas by Sauer, Torill, Beraki, Kahsai, Furu, Irene, Ormerod, Eli, Jebsen, Peter W., Næss, Oddvar

“…TP53 mutations have been found in 16–64% of breast carcinomas. The aim of our study was to investigate loss of the wild‐type TP53 gene by in situ hybridization…”
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Påvisning av dødsårsak ved intrauterin død - hvilke undersøkelser bør gjøres? by Frøen, J. Frederik, Vege, Åshild, Ormerod, Eli, Stray-Pedersen, Babill

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In situ hybridization of chromosome 6 on fine-needle aspirates from breast carcinomas: Comparison of numerical abnormalities and ER/PgR status and staining pattern by Sauer, Torill, Beraki, Kahsai, Jebsen, Peter Wilhelm, Ormerod, Eli, Naess, Oddvar

“…The estrogen receptor (ER) gene is located on chromosome 6. The aim of our study was to investigate whether numerical chromosomal aberrations were reflected in…”
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Technical and biological aspects of pseudomosaicism and mosaicism by Møller, P, Ormerod, E

“…In 471 amniotic fluid cell cultures, single abnormal cells were found to be randomly distributed. The expected number of pseudomosaicisms for aneuploidy due to…”
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Unilateral cleft lip in a boy with Angelman syndrome by Rösby, O, Strömme, P, Sandsmark, M, Ramstad, K, Ormerod, E, Birger van der Hagen, C, Kubota, T, Ledbetter, D H, Orstavik, K H

“…We report on a mentally retarded boy with epileptic seizures, microcephaly, ataxia, and developmental delay. His clinical features were consistent with…”
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Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene by Ørstavik, Karen Helene, Knudsen, Gun Peggy S., Nordgarden, Hilde, Ormerod, Eli, Strømme, Petter, Lazarou, Lazarous P., Rosser, Lyndon G., Prescott, Trine, Houge, Gunnar

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