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Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations
by
Dotto, Renata P
,
Giuffrida, Fernando M.A
,
Franco, Luciana
,
Mathez, Andreia L.G
,
Weinert, Leticia S
,
Silveiro, Sandra P
,
Sa, Joao R
,
Reis, Andre F
,
Dias-da-Silva, Magnus R
Published in
Diabetes research and clinical practice
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The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene
by
Carvalheira, Gianna
,
Malinverni, Andrea M
,
Moysés-Oliveira, Mariana
,
Ueta, Renata
,
Cardili, Leonardo
,
Monteagudo, Patrícia
,
Mathez, Andreia L G
,
Verreschi, Ieda T
,
Maluf, Miguel A
,
Shida, Márcia E F
,
Leite, Mila T C
,
Mazzotti, Diego
,
Melaragno, Maria Isabel
,
Dias-da-Silva, Magnus R
Published in
Journal of the Endocrine Society
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The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene
by
Carvalheira, Gianna
,
Malinverni, Andrea M
,
Moysés-Oliveira, Mariana
,
Ueta, Renata
,
Cardili, Leonardo
,
Monteagudo, Patrícia
,
Mathez, Andreia L G
,
Verreschi, Ieda T
,
Maluf, Miguel A
,
Shida, Márcia E F
,
Leite, Mila T C
,
Mazzotti, Diego
,
Melaragno, Maria Isabel
,
Dias-da-Silva, Magnus R
Published in
Journal of the Endocrine Society
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Diabetes Research And Clinical Practice
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Journal Of The Endocrine Society
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Endocrinology & Metabolism
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Life Sciences & Biomedicine
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Brazil
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Case Report
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Central Nervous System Diseases
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Dental Enamel - Abnormalities
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Diabetes Mellitus
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Diabetes Mellitus, Type 2 - Diagnosis
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Diabetes Mellitus, Type 2 - Genetics
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Gene Deletion
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Genetic Variation
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Hepatocyte Nuclear Factor 1-Alpha - Genetics
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Heterozygote
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