Search Results - "Mansouri, Mahmoud Reza"

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure by Mansouri, Mahmoud Reza, Schuster, Jens, Badhai, Jitendra, Stattin, Eva-Lena, Lösel, Ralf, Wehling, Martin, Carlsson, Birgit, Hovatta, Outi, Karlström, Per Olof, Golovleva, Irina, Toniolo, Daniela, Bione, Silvia, Peluso, John, Dahl, Niklas

“…Premature ovarian failure (POF) is characterized by hypergonadotropic hypogonadism and amenorrhea before the age of 40. The condition has a heterogeneous…”
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A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population by Entesarian, Miriam, Carlsson, Birgit, Mansouri, Mahmoud Reza, Stattin, Eva-Lena, Holmberg, Eva, Golovleva, Irina, Stefansson, Hreinn, Klar, Joakim, Dahl, Niklas

“…We identified a paracentric inversion of chromosome 10 [inv(10)(q11.22q21.1)] in 0.20% of Swedish individuals (15/7,439) referred for cytogenetic analysis. A…”
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Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation by MANSOURI, Mahmoud Reza, MARKLUND, Lena, GUSTAVSSON, Peter, DAVEY, Edward, CARLSSON, Birgit, LARSSON, Catharina, WHITE, Irene, GUSTAVSON, Karl-Henrik, DAHL, Niklas

“…X-linked mental retardation (XLMR) affects one in 600 males and is highly heterogeneous. We describe here a 29-year-old woman with severe nonsyndromic mental…”
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High-density screening reveals a different spectrum of genomic aberrations in chronic lymphocytic leukemia patients with ‘stereotyped’ IGHV3-21 and IGHV4-34 B-cell receptors by MARINCEVIC, Millaray, CAHILL, Nicola, ADAMI, Hans-Olov, DAVI, Fred, JURLANDER, Jesper, JULIUSSON, Gunnar, STAMATOPOULOS, Kostas, ROSENQUIST, Richard, GUNNARSSON, Rebeqa, ISAKSSON, Anders, MANSOURI, Mahmoud, GÖRANSSON, Hanna, RASMUSSEN, Markus, JANSSON, Mattias, RYAN, Fergus, KARLSSON, Karin

“…The existence of multiple subsets of chronic lymphocytic leukemia expressing 'stereotyped' B-cell receptors implies the involvement of antigen(s) in…”
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Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;qll.2) associated with hypospadias and anorectal malformation by MANSOURI, Mahmoud Reza, CARLSSON, Birgit, DAVEY, Edward, NORDENSKJÖLD, Agneta, WESTER, Tomas, ANNEREN, Göran, LÄCKGREN, Cöran, DAHL, Niklas

“…We report a young boy with penoscrotal hypospadias, anal atresia (AA) with a recto-urethral fistula, a hypoplastic kidney and a balanced translocation…”
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