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51

The evolution of the search for novel genes in mammalian sex determination: From mice to men

Valerie A. Arboleda, Eric Vilain

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 153 KB

english, 2011

52

Defects in energy metabolism: Coming of age, slowly

Stephen Cederbaum, Eric Vilain

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 19 KB

english, 2000

53

Newborn screening for inborn errors of metabolism is going to expand: Are we ready?

Stephen Cederbaum, Eric Vilain

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 94 KB

english, 1999

54

Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation

Phoebe Dewing, Tao Shi, Steve Horvath, Eric Vilain

Journal:

Molecular Brain Research

Year:

2003

Language:

english

File:

PDF, 337 KB

english, 2003

55

Addendum to “Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency” [Mol. Genet. Metab. 77 (2002) 195–201]

Stephen D. Cederbaum, Samantha Koo-McCoy, Ingrid Tein, Betty Y.L. Hsu, Arupa Ganguly, Eric Vilain, Katrina Dipple, Ljerka Cvitanovic-Sojat, Charles Stanley

Journal:

Molecular Genetics and Metabolism

Year:

2003

Language:

english

File:

PDF, 53 KB

english, 2003

56

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Stephen D Cederbaum, Samantha Koo-McCoy, Ingrid Tein, Betty Y.L Hsu, Arupa Ganguly, Eric Vilain, Katrina Dipple, Ljerka Cvitanovic-Sojat, Charles Stanley

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 113 KB

english, 2002

57

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

Yao-Hua Zhang, Weiwen Guo, Richard L. Wagner, Bing-Ling Huang, Linda McCabe, Eric Vilain, Thomas P. Burris, Kwame Anyane-Yeboa, Arthur H.M. Burghes, David Chitayat, Albert E. Chudley, Myron Genel, Jos

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 404 KB

english, 1998

58

Primate DAX1, SRY, and SOX9: Evolutionary Stratification of Sex-Determination Pathway

Megha Patel, Karin S. Dorman, Yao-Hua Zhang, Bing-Ling Huang, Arthur P. Arnold, Janet S. Sinsheimer, Eric Vilain, Edward R.B. McCabe

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 150 KB

english, 2001

59

Up-Regulation of WNT-4 Signaling and Dosage-Sensitive Sex Reversal in Humans

Brian K. Jordan, Mansoor Mohammed, Saunders T. Ching, Emmanuèle Délot, Xiao-Ning Chen, Phoebe Dewing, Amanda Swain, P. Nagesh Rao, B. Rafael Elejalde, Eric Vilain

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 761 KB

english, 2001

60

Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure

Arnaud Lacombe, Hane Lee, Laila Zahed, Mahmoud Choucair, Jean-Marc Muller, Stanley F. Nelson, Wael Salameh, Eric Vilain

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 927 KB

english, 2006

61

Membrane β-catenin and adherens junctions in early gonadal patterning

Fleming, Alice, Ghahramani, Negar, Zhu, Maggie Xiaoming, Délot, Emmanuèle C., Vilain, Eric

Journal:

Developmental Dynamics

Year:

2012

Language:

english

File:

PDF, 2.86 MB

english, 2012

62

Increased Cortical Thickness in Male-to-Female Transsexualism

Luders, Eileen, Sánchez, Francisco J., Tosun, Duygu, Shattuck, David W., Gaser, Christian, Vilain, Eric, Toga, Arthur W.

Journal:

Journal of Behavioral and Brain Science

Year:

2012

Language:

english

File:

PDF, 153 KB

english, 2012

63

Mechanisms of Disease: transcription factors in sex determination—relevance to human disorders of sex development

Nikolova, Ganka, Vilain, Eric

Journal:

Nature Clinical Practice Endocrinology and Metabolism

Year:

2006

Language:

english

File:

PDF, 181 KB

english, 2006

64

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

Strom, Samuel P., Lee, Hane, Das, Kingshuk, Vilain, Eric, Nelson, Stanley F., Grody, Wayne W., Deignan, Joshua L.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 524 KB

english, 2014

65

The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance

Chen, Xuqi, Williams-Burris, Shayna M, McClusky, Rebecca, Ngun, Tuck C, Ghahramani, Negar, Barseghyan, Hayk, Reue, Karen, Vilain, Eric, Arnold, Arthur P

Journal:

Biology of Sex Differences

Year:

2013

Language:

english

File:

PDF, 298 KB

english, 2013

66

The Genetics of Disorders of Sex Development in Humans

Ohnesorg, Thomas, Vilain, Eric, Sinclair, Andrew H.

Journal:

Sexual Development

Year:

2014

Language:

english

File:

PDF, 191 KB

english, 2014

67

Births, Mariages, and Deaths.

Lambert, Sarah M., Vilain, Eric J.N., Kolon, Thomas F.

Journal:

Year:

1925

Language:

english

File:

PDF, 219 KB

english, 1925

68

XY Sex reversal associated with a nonsense mutation in SRY

McElreavey, Ken D., Vilain, Eric, Boucekkine, Chafika, Vidaud, Michel, Jaubert, François, Richaud, François, Fellous, Marc

Journal:

Year:

1992

Language:

english

File:

PDF, 1.53 MB

english, 1992

69

IN VITRO EFFECTS OF A SINGLE NUCLEOTIDE POLYMORPHISM ON EXPRESSION OF EXTRACELLULAR MATRIX PROTEIN LAMININ GAMMA-1 (LAMC1)

Arboleda, Valerie A, Twiss, Christian O, Vilain, Eric, Rodriguez, Larissa V

Journal:

The Journal of Urology

Year:

2008

Language:

english

File:

PDF, 124 KB

english, 2008

70

We used to call them hermaphrodites

Vilain, Eric, Achermann, John C, Eugster, Erica A, Harley, Vincent R, Morel, Yves, Wilson, Jean D, Hiort, Olaf

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 82 KB

english, 2007

71

Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10

Jelena, Brezo, Christina, Lam, Eric, Vilain, Fabiola, Quintero-Rivera

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 593 KB

english, 2014

72

Women With Hyperandrogenism in Elite Sports: Scientific and Ethical Rationales for Regulating

Bermon, Stéphane, Vilain, Eric, Fénichel, Patrick, Ritzén, Martin

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 152 KB

english, 2015

73

Reproductive endocrinology: Athletes' bodies, sexed bodies—intersexuality in athletics

Vilain, Eric, Sánchez, Francisco J.

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Year:

2011

Language:

english

File:

PDF, 263 KB

english, 2011

74

SPIE Proceedings [SPIE Aerospace/Defense Sensing, Simulation, and Controls - Orlando, FL (Monday 16 April 2001)] Infrared Technology and Applications XXVII - Enhanced amorphous silicon technology for 320 x 240 microbolometer arrays with a pitch of 35 μm

Mottin, Eric, Martin, Jean-Luc, Ouvrier-Buffet, Jean-Louis, Vilain, Michel, Bain, Astrid, Yon, Jean-Jacques, Tissot, Jean-Luc, Chatard, Jean-Pierre, Andresen, Bjorn F., Fulop, Gabor F., Strojnik, Mari

Year:

2001

Language:

english

File:

PDF, 192 KB

english, 2001

75

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

Strom, Samuel P, Lozano, Reymundo, Lee, Hane, Dorrani, Naghmeh, Mann, John, O’Lague, Patricia F, Mans, Nicole, Deignan, Joshua L, Vilain, Eric, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabi

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 655 KB

english, 2014

76

Advances in diagnosis and care of persons with DSD over the last decade

Lee, Peter A, Wisniewski, Amy B, Baskin, Laurence, Vogiatzi, Maria G, Vilain, Eric, Rosenthal, Stephen M, Houk, Christopher

Journal:

International Journal of Pediatric Endocrinology

Year:

2014

Language:

english

File:

PDF, 809 KB

english, 2014

77

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase

Borges, Kleiton S, Arboleda, Valerie A, Vilain, Eric

Journal:

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

78

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

Fogel, Brent L., Lee, Hane, Deignan, Joshua L., Strom, Samuel P., Kantarci, Sibel, Wang, Xizhe, Quintero-Rivera, Fabiola, Vilain, Eric, Grody, Wayne W., Perlman, Susan, Geschwind, Daniel H., Nelson, S

Journal:

Year:

2014

Language:

english

File:

PDF, 521 KB

english, 2014

79

Interpreting Whole-Genome Sequencing

Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.

Journal:

JAMA The Journal of the American Medical Association

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

80

SPIE Proceedings [SPIE International Symposium on Optical Science and Technology - San Diego, CA (Sunday 30 July 2000)] Infrared Technology and Applications XXVI - 320 x 240 microbolometer uncooled IRFPA development

Tissot, Jean-Luc, Martin, Jean-Luc, Mottin, Eric, Vilain, Michel, Yon, Jean-Jacques, Chatard, Jean-Pierre, Andresen, Bjorn F., Fulop, Gabor F., Strojnik, Marija

Year:

2000

Language:

english

File:

PDF, 509 KB

english, 2000

81

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata

Barbaux, Sandrine, Vilain, Eric, Raoul, Odile, Gilgenkrantz, Simone, Jeandidier, Eric, Chadenas, Denis, Souleyreau, Nicole, Fellous, Marc, McElreavey, Ken

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.43 MB

english, 1995

82

Disorders of Gonadal Development

Dewing, Phoebe, Bernard, Pascal, Vilain, Eric

Journal:

Seminars in Reproductive Medicine

Year:

2002

Language:

english

File:

PDF, 111 KB

english, 2002

83

Dead Chromosome Walking

Journal:

Pediatric Research

Year:

2004

Language:

english

File:

PDF, 36 KB

english, 2004

84

IMAGe, a New Clinical Association of I ntrauterine Growth Retardation, M etaphyseal Dysplasia, A drenal Hypoplasia Congenita, and Ge nital Anomalies

Vilain, Eric, Le Merrer, Martine, Lecointre, Claudine, Desangles, Francois, Kay, Mark A., Maroteaux, Pierre, McCabe, Edward R. B.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1999

Language:

english

File:

PDF, 495 KB

english, 1999

85

Familial Mutation in the Testis-Determining Gene SRY Shared by an XY Female and Her Normal Father

Jordan, Brian K., Jain, Manas, Natarajan, Sathima, Frasier, S. Douglas, Vilain, Eric

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2002

Language:

english

File:

PDF, 298 KB

english, 2002

86

Prolactin Expression in the Sheep Brain

Roselli, Charles E., Bocklandt, Sven, Stadelman, Henry L., Wadsworth, Teri, Vilain, Eric, Stormshak, Fred

Journal:

Neuroendocrinology

Year:

2008

Language:

english

File:

PDF, 566 KB

english, 2008

87

The importance of having two X chromosomes

Arnold, Arthur P., Reue, Karen, Eghbali, Mansoureh, Vilain, Eric, Chen, Xuqi, Ghahramani, Negar, Itoh, Yuichiro, Li, Jingyuan, Link, Jenny C., Ngun, Tuck, Williams-Burris, Shayna M.

Journal:

Philosophical Transactions Biological Sciences

Year:

2016

Language:

english

File:

PDF, 748 KB

english, 2016

88

XY Sex Reversal Associated with a Deletion 5' to the SRY "HMG Box" in the Testis-Determining Region

Ken McElreavy, Eric Vilain, Nacer Abbas, Jean-Marc Costa, Nicole Souleyreau, Kiran Kucheria, Chafika Boucekkine, Elisabeth Thibaud, Raja Brauner, Francoise Flamant and Marc Fellous

Journal:

Proceedings of the National Academy of Sciences

Year:

1992

Language:

english

File:

PDF, 1.10 MB

english, 1992

89

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing

Babkina, Natalia, Deignan, Joshua L., Lee, Hane, Vilain, Eric, Sankar, Raman, Giurgea, Irina, Mowat, David, Graham, John M.

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 586 KB

english, 2016

90

A Regulatory Cascade Hypothesis for Mammalian Sex Determination: SRY Represses a Negative Regulator of Male Development

Ken McElreavey, Eric Vilain, Nacer Abbas, Ira Herskowitz and Marc Fellous

Journal:

Proceedings of the National Academy of Sciences

Year:

1993

Language:

english

File:

PDF, 1.12 MB

english, 1993

91

SPIE Proceedings [SPIE AeroSense 2000 - Orlando, FL (Monday 24 April 2000)] Infrared Detectors and Focal Plane Arrays VI - 320x240 microblometer uncooled IRFPA

Mottin, Eric, Martin, Jean-Luc, Ouvrier-Buffet, Jean-Louis, Vilain, Michel, Yon, Jean-Jacques, Chatard, Jean-Pierre, Dereniak, Eustace L., Sampson, Robert E.

Year:

2000

Language:

english

File:

PDF, 740 KB

english, 2000

92

In search of an unknown primary tumour presenting with cervical metastases: Performance of hybrid FDG-PET???CT

Wartski, Myriam, Stanc, Elise Le, Gontier, Eric, Vilain, Didier, Banal, Alain, Tainturier, Catherine, Pecking, Alain Paul, Alberini, Jean Louis

Journal:

Nuclear Medicine Communications

Year:

2007

Language:

english

File:

PDF, 176 KB

english, 2007

93

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Bashamboo, Anu, Donohoue, Patricia A, Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N., Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A., Mulukulta, Surya N

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.89 MB

english, 2016

94

WNT4 mediates the autocrine effects of growth hormone in mammary carcinoma cells

Vouyovitch, Cécile M, Perry, Jo K, Liu, Dong Xu, Bezin, Laurent, Vilain, Eric, Diaz, Jean-Jacques, Lobie, Peter E, Mertani, Hichem C

Journal:

Endocrine Related Cancer

Year:

2016

Language:

english

File:

PDF, 1.27 MB

english, 2016

95

The unfinished race: 30 years of gender verification in sport

Martínez-Patiño, María José, Vilain, Eric, Bueno-Guerra, Nereida

Journal:

Year:

2016

Language:

english

File:

PDF, 447 KB

english, 2016

96

Masculine gender role conflict and negative feelings about being gay.

Sánchez, Francisco J., Westefeld, John S., Liu, William Ming, Vilain, Eric

Journal:

Professional Psychology: Research and Practice

Year:

2010

Language:

english

File:

PDF, 189 KB

english, 2010

97

The subjective experience of social class and upward mobility among African American men in graduate school.

Sánchez, Francisco J., Liu, William Ming, Leathers, Leslie, Goins, Joyce, Vilain, Eric

Journal:

Psychology of Men and Masculinity

Year:

2011

Language:

english

File:

PDF, 79 KB

english, 2011

98

Microdeletion of ZBTB20 Results in a Phenotype Overlapping With That of the Microdeletion 3q13.31 Syndrome

Mulatinho, Milene, Tenney, Jessica, Vilain, Eric, Quintero-Rivera, Fabiola

Journal:

Cancer Genetics

Year:

2016

Language:

english

File:

PDF, 47 KB

english, 2016

99

Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development

Bramble, Matthew S., Lipson, Allen, Vashist, Neerja, Vilain, Eric

Journal:

Journal of Neuroscience Research

Year:

2017

Language:

english

File:

PDF, 352 KB

english, 2017

100

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Bashamboo, Anu, Donohoue, Patricia A., Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N., Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A., Mulukutla, Surya

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 40 KB

english, 2016

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