Found: 23
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Del (X)(p21.2) in a mother and two daughters with variable ovarian function.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 4, p. 235, doi. 10.1111/j.1399-0004.1997.tb02554.x
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- Publication type:
- Article
Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 7, p. 471, doi. 10.1002/ajmg.b.32745
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- Publication type:
- Article
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2487, doi. 10.1002/ajmg.a.36084
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- Article
A fork in the road to fertility.
- Published in:
- Nature Genetics, 2001, v. 27, n. 2, p. 132, doi. 10.1038/84735
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- Publication type:
- Article
Effect of Growth Hormone Therapy on Severe Short Stature and Skeletal Deformities in a Patient with Combined Turner Syndrome and Langer Mesomelic Dysplasia.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 12, p. 5028, doi. 10.1210/jc.2009-0679
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- Publication type:
- Article
Androgen Receptor CAG<sub>n</sub> Repeat Length Influences Phenotype of 47,XXY (Klinefelter) Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 9, p. 5041, doi. 10.1210/jc.2005-0432
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- Publication type:
- Article
Editorial: MC4R Mutations—Weight before Screening!
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 6, p. 1671, doi. 10.1210/jc.2006-0546
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- Publication type:
- Article
Phenotypes Associated with SHOX Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 12, p. 5674, doi. 10.1210/jcem.86.12.8125
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- Publication type:
- Article
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.
- Published in:
- Human Genetics, 2008, v. 123, n. 5, p. 469, doi. 10.1007/s00439-008-0498-4
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- Publication type:
- Article
The physical phenotype of girls and women with Turner syndrome is not X-imprinted.
- Published in:
- Human Genetics, 2007, v. 121, n. 3/4, p. 469, doi. 10.1007/s00439-007-0324-4
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- Publication type:
- Article
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
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- 2012
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- Correction Notice
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 540, doi. 10.1038/ejhg.2010.245
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- Publication type:
- Article
Postnatal Sim1 Deficiency Causes Hyperphagic Obesity and Reduced Mc4r and Oxytocin Expression.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 10, p. 3803, doi. 10.1523/JNEUROSCI.5444-09.2010
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- Publication type:
- Article
The X Chromosome and the Ovary.
- Published in:
- Reproductive Sciences, 2001, v. 8, n. 1S, p. S34, doi. 10.1177/1071557601008001S11
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- Publication type:
- Article
The X Chromosome and the Ovary.
- Published in:
- Reproductive Sciences, 2001, v. 8, n. 1S, p. S34, doi. 10.1177/1071557601008001s11
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- Publication type:
- Article
X-linked Reticulate Pigmentary Disorder with Systemic Manifestations: Report of a Third Family and Literature Review.
- Published in:
- Pediatric Dermatology, 2005, v. 22, n. 2, p. 122, doi. 10.1111/j.1525-1470.2005.22206.x
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- Publication type:
- Article
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea.
- Published in:
- 2008
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- Publication type:
- journal article
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea.
- Published in:
- Human Reproduction, 2008, v. 23, n. 1, p. 216
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- Publication type:
- Article
MODY-like diabetes associated with an apparently balanced translocation: possible involvement of MPP7 gene and cell polarity in the pathogenesis of diabetes.
- Published in:
- Molecular Cytogenetics (17558166), 2009, v. 2, p. 1, doi. 10.1186/1755-8166-2-5
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- Publication type:
- Article
Increased Prevalence of ADHD in Turner Syndrome with No Evidence of Imprinting Effects.
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- Journal of Pediatric Psychology, 2006, v. 31, n. 9, p. 945, doi. 10.1093/jpepsy/jsj106
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- Publication type:
- Article
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.
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- Human Molecular Genetics, 2000, v. 9, n. 1, p. 101
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- Publication type:
- Article
New gene family defined by MORC, a nuclear protein required for mouse spermatogenesis.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 7, p. 201, doi. 10.1093/hmg/8.7.1201
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- Publication type:
- Article
A Serotonin and Melanocortin Circuit Mediates D-Fenfluramine Anorexia.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 44, p. 14630, doi. 10.1523/JNEUROSCI.5412-09.2010
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- Publication type:
- Article