Search Results - "BERNHARD, Birgitta"

A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma by Maher, Michelle, Roncaroli, Federico, Mendoza, Nigel, Meeran, Karim, Canham, Natalie, Kosicka-Slawinska, Monika, Bernhard, Birgitta, Collier, David, Drummond, Juliana, Skordilis, Kassiani, Tufton, Nicola, Gontsarova, Anastasia, Martin, Niamh, Korbonits, Márta, Wernig, Florian

“…Summary Symptomatic pituitary adenomas occur with a prevalence of approximately 0.1% in the general population. It is estimated that 5% of pituitary adenomas…”
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Patched mutations and hairy skin patches: A new sign in Gorlin syndrome by Wilson, Louise C., Ajayi‐Obe, Ekundayo, Bernhard, Birgitta, Maas, Saskia M.

“…We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families…”
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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome by Jansen, Sandra, Geuer, Sinje, Pfundt, Rolph, Brough, Rachel, Ghongane, Priyanka, Herkert, Johanna C., Marco, Elysa J., Willemsen, Marjolein H., Kleefstra, Tjitske, Hannibal, Mark, Shieh, Joseph T., Lynch, Sally Ann, Flinter, Frances, FitzPatrick, David R., Gardham, Alice, Bernhard, Birgitta, Ragge, Nicola, Newbury-Ecob, Ruth, Bernier, Raphael, Kvarnung, Malin, Magnusson, E.A. Helena, Wessels, Marja W., van Slegtenhorst, Marjon A., Monaghan, Kristin G., de Vries, Petra, Veltman, Joris A., Lord, Christopher J., Vissers, Lisenka E.L.M., de Vries, Bert B.A.

“…Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes, yet a genetic diagnosis remains elusive in ∼35%–40% of…”
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A CGG-Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families by Metsu, Sofie, Rainger, Jacqueline K., Debacker, Kim, Bernhard, Birgitta, Rooms, Liesbeth, Grafodatskaya, Daria, Weksberg, Rosanna, Fombonne, Eric, Taylor, Martin S., Scherer, Stephen W., Kooy, R. Frank, FitzPatrick, David R.

“…ABSTRACT We report de novo occurrence of the 7p11.2 folate‐sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG‐repeat…”
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Three’s a crowd: 10q triplication secondary to a paternal 10q duplication by Gardham, Alice, Sullivan, Caroline, Bernhard, Birgitta

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Variable developmental delays and characteristic facial features—A novel 7p22.3p22.2 microdeletion syndrome? by Yu, Andrea C., Zambrano, Regina M., Cristian, Ingrid, Price, Sue, Bernhard, Birgitta, Zucker, Marc, Venkateswaran, Sunita, McGowan‐Jordan, Jean, Armour, Christine M.

“…Isolated 7p22.3p22.2 deletions are rarely described with only two reports in the literature. Most other reported cases either involve a much larger region of…”
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome by Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J Lloyd, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei

“…Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism…”
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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder by Snijders Blok, Lot, Verseput, Jolijn, Rots, Dmitrijs, Venselaar, Hanka, Innes, A. Micheil, Stumpel, Connie, Õunap, Katrin, Reinson, Karit, Seaby, Eleanor G., McKee, Shane, Burton, Barbara, Kim, Katherine, van Hagen, Johanna M., Waisfisz, Quinten, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Li, Dong, Zackai, Elaine H., Sheppard, Sarah E., Keena, Beth, Hakonarson, Hakon, Roos, Andreas, Kohlschmidt, Nicolai, Cereda, Anna, Iascone, Maria, Rebessi, Erika, Kernohan, Kristin D., Campeau, Philippe M., Millan, Francisca, Taylor, Jesse A., Lochmüller, Hanns, Higgs, Martin R., Goula, Amalia, Bernhard, Birgitta, Velasco, Danita J., Schmanski, Andrew A., Stark, Zornitza, Gallacher, Lyndon, Pais, Lynn, Marcogliese, Paul C., Yamamoto, Shinya, Raun, Nicholas, Jakub, Taryn E., Kramer, Jamie M., den Hoed, Joery, Fisher, Simon E., Brunner, Han G., Kleefstra, Tjitske

“…WDR5 is a broadly studied, highly conserved key protein involved in a wide array of biological functions. Among these functions, WDR5 is a part of several…”
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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome by Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder, Jr, J, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei

“…It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This…”
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Uptake of testing for BRCA1 2 mutations in South East Scotland by HOLLOWAY, Susan M, BERNHARD, Birgitta, CAMPBELL, Harry, LAM, Wayne W. K

“…We investigated the uptake of genetic testing by 54 families in South East Scotland with a BRCA1/2 mutation. At a median of 37 months since identification of…”
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Inequality of use of Cancer Genetics Services by members of breast, ovarian and colorectal cancer families in South East Scotland by Holloway, Susan M., Bernhard, Birgitta, Campbell, Harry, Cetnarskyj, Roseanne, Lam, Wayne W. K.

“…Some studies have found a deficiency of male, younger and more socially deprived individuals amongst referrals to and/or attendees at cancer genetics clinics…”
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Patched mutations and hairy skin patches: A new sign in Gorlin syndrome by Wilson, Louise C., Ajayi-Obe, Ekundayo, Bernhard, Birgitta, Maas, Saskia M.

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