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Mammalian sex determination—insights from humans and mice
Mammalian sex determination—insights from humans and mice
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Artigo 		Adicionar ao Meu Espaço

Mammalian sex determination—insights from humans and mice

Eggers, Stefanie ; Sinclair, Andrew

Chromosome research, 2012, Vol.20 (1), p.215-238 [Periódico revisado por pares]

Dordrecht: Springer-Verlag

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2
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Tan, Tiong Yang ; Gonzaga-Jauregui, Claudia ; Bhoj, Elizabeth J. ; Strauss, Kevin A. ; Brigatti, Karlla ; Puffenberger, Erik ; Li, Dong ; Xie, LiQin ; Das, Nanditha ; Skubas, Ioanna ; Deckelbaum, Ron A. ; Hughes, Virginia ; Brydges, Susannah ; Hatsell, Sarah ; Siao, Chia-Jen ; Dominguez, Melissa G. ; Economides, Aris ; Overton, John D. ; Mayne, Valerie ; Simm, Peter J. ; Jones, Bryn O. ; Eggers, Stefanie ; Le Guyader, Gwenaël ; Pelluard, Fanny ; Haack, Tobias B. ; Sturm, Marc ; Riess, Angelika ; Waldmueller, Stephan ; Hofbeck, Michael ; Steindl, Katharina ; Joset, Pascal ; Rauch, Anita ; Hakonarson, Hakon ; Baker, Naomi L. ; Farlie, Peter G.

American journal of human genetics, 2017-12, Vol.101 (6), p.985-994 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Ayers, Katie L ; Eggers, Stefanie ; Rollo, Ben N ; Smith, Katherine R ; Davidson, Nadia M ; Siddall, Nicole A ; Zhao, Liang ; Bowles, Josephine ; Weiss, Karin ; Zanni, Ginevra ; Burglen, Lydie ; Ben-Shachar, Shay ; Rosensaft, Jenny ; Raas-Rothschild, Annick ; Jørgensen, Anne ; Schittenhelm, Ralf B ; Huang, Cheng ; Robevska, Gorjana ; van den Bergen, Jocelyn ; Casagranda, Franca ; Cyza, Justyna ; Pachernegg, Svenja ; Wright, David K ; Bahlo, Melanie ; Oshlack, Alicia ; O'Brien, Terrence J ; Kwan, Patrick ; Koopman, Peter ; Hime, Gary R ; Girard, Nadine ; Hoffmann, Chen ; Shilon, Yuval ; Zung, Amnon ; Bertini, Enrico ; Milh, Mathieu ; Ben Rhouma, Bochra ; Belguith, Neila ; Bashamboo, Anu ; McElreavey, Kenneth ; Banne, Ehud ; Weintrob, Naomi ; BenZeev, Bruria ; Sinclair, Andrew H

Nature communications, 2023-06, Vol.14 (1), p.3566-3566, Article 3566 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
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Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

Lunke, Sebastian ; Bouffler, Sophie E ; Downie, Lilian ; Caruana, Jade ; Amor, David J ; Archibald, Alison ; Bombard, Yvonne ; Christodoulou, John ; Clausen, Marc ; De Fazio, Paul ; Greaves, Ronda F ; Hollizeck, Sebastian ; Kanga-Parabia, Anaita ; Lang, Nitzan ; Lynch, Fiona ; Peters, Riccarda ; Sadedin, Simon ; Tutty, Erin ; Eggers, Stefanie ; Lee, Crystle ; Wall, Meaghan ; Yeung, Alison ; Gaff, Clara ; Gyngell, Christopher ; Vears, Danya F ; Best, Stephanie ; Goranitis, Ilias ; Stark, Zornitza

BMJ open, 2024-04, Vol.14 (4), p.e081426-e081426 [Periódico revisado por pares]

England: British Medical Journal Publishing Group

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5
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)
XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)
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XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)

Meyers-Wallen, Vicki N ; Boyko, Adam R ; Danko, Charles G ; Grenier, Jennifer K ; Mezey, Jason G ; Hayward, Jessica J ; Shannon, Laura M ; Gao, Chuan ; Shafquat, Afrah ; Rice, Edward J ; Pujar, Shashikant ; Eggers, Stefanie ; Ohnesorg, Thomas ; Sinclair, Andrew H Englert, Christoph

PloS one, 2017-10, Vol.12 (10), p.e0186331-e0186331 [Periódico revisado por pares]

United States: Public Library of Science

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6
Copy number variation associated with meiotic arrest in idiopathic male infertility
Copy number variation associated with meiotic arrest in idiopathic male infertility
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Copy number variation associated with meiotic arrest in idiopathic male infertility

Eggers, Stefanie, Ph.D ; DeBoer, Kathleen D., Ph.D ; van den Bergen, Jocelyn, B.Sc ; Gordon, Lavinia, M.Sc ; White, Stefan J., Ph.D ; Jamsai, Duangporn, Ph.D ; McLachlan, Robert I., Ph.D ; Sinclair, Andrew H., Ph.D ; O'Bryan, Moira K., Ph.D

Fertility and sterility, 2015, Vol.103 (1), p.214-219 [Periódico revisado por pares]

United States: Elsevier Inc

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7
The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji
The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji
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The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji

Boelsen, Laura K ; Dunne, Eileen M ; Mika, Moana ; Eggers, Stefanie ; Nguyen, Cattram D ; Ratu, F Tupou ; Russell, Fiona M ; Mulholland, E Kim ; Hilty, Markus ; Satzke, Catherine

Microbiome, 2019-07, Vol.7 (1), p.106-106, Article 106 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development
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Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

Bergen, Jocelyn A. ; Robevska, Gorjana ; Eggers, Stefanie ; Riedl, Stefan ; Grover, Sonia R. ; Bergman, Philip B. ; Kimber, Chris ; Jiwane, Ashish ; Khan, Sophy ; Krausz, Csilla ; Raza, Jamal ; Atta, Irum ; Davis, Susan R. ; Ono, Makato ; Harley, Vincent ; Faradz, Sultana M. H. ; Sinclair, Andrew H. ; Ayers, Katie L.

Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1095-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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9
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
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Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

Kaur, Simranpreet ; Van Bergen, Nicole J. ; Gold, Wendy Anne ; Eggers, Stefanie ; Lunke, Sebastian ; White, Susan M. ; Ellaway, Carolyn ; Christodoulou, John

Clinical case reports, 2019-12, Vol.7 (12), p.2476-2482 [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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10
Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach
Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach
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Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach

Ohnesorg, Thomas ; Eggers, Stefanie ; Leonhard, Wouter N ; Sinclair, Andrew H ; White, Stefan J

BMC genomics, 2009-09, Vol.10 (1), p.412-412, Article 412 [Periódico revisado por pares]

England: BioMed Central Ltd

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