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Preferential Inactivation of a dupX(q23 → q27-28) Chromosome in a Girl with Mental Retardation and Dysmorphy.
- Published in:
- Human Heredity, 2001, v. 52, n. 3, p. 177, doi. 10.1159/000053374
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- Publication type:
- Article
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
- Published in:
- 2012
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- Publication type:
- Journal Article
Frame shift mutation of LHX1 is associated with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome.
- Published in:
- Human Reproduction, 2012, v. 27, n. 9, p. 2872, doi. 10.1093/humrep/des206
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- Publication type:
- Article
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.
- Published in:
- Human Reproduction, 2010, v. 25, n. 10, p. 2637, doi. 10.1093/humrep/deq167
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- Publication type:
- Article
Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives.
- Published in:
- Human Reproduction, 2010, v. 25, n. 5, p. 1339, doi. 10.1093/humrep/deq048
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- Publication type:
- Article
Androgeninsensitivität.
- Published in:
- Medizinische Genetik, 2011, v. 23, n. 2, p. 249, doi. 10.1007/s11825-011-0275-y
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- Publication type:
- Article
Genetisch bedingte Entwicklungsstörungen der Genitalwege.
- Published in:
- Medizinische Genetik, 2011, v. 23, n. 2, p. 267, doi. 10.1007/s11825-011-0269-9
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- Publication type:
- Article
Genetische Ursachen der prämaturen Ovarialinsuffizienz und Ovardysgenesie.
- Published in:
- Medizinische Genetik, 2011, v. 23, n. 2, p. 237, doi. 10.1007/s11825-011-0270-3
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- Publication type:
- Article
Störungen der Bildung von Sexualsteroidhormonen und Hyperandrogenämie bei der Frau.
- Published in:
- Medizinische Genetik, 2011, v. 23, n. 2, p. 244, doi. 10.1007/s11825-011-0276-x
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- Publication type:
- Article
Hypogonadotroper Hypogonadismus aufgrund eines IHH oder Kallmann-Syndroms beim Mann.
- Published in:
- Medizinische Genetik, 2011, v. 23, n. 2, p. 254, doi. 10.1007/s11825-011-0278-8
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- Publication type:
- Article
Störungen der männlichen Gonadendifferenzierung.
- Published in:
- Medizinische Genetik, 2011, v. 23, n. 2, p. 231, doi. 10.1007/s11825-011-0279-7
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- Publication type:
- Article
Oral contraception in disease states.
- Published in:
- International Journal of Gynecology & Obstetrics, 1991, v. 36, n. 3, p. 259, doi. 10.1016/0020-7292(91)90733-L
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- Publication type:
- Article
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
- Published in:
- 2013
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- Publication type:
- journal article
Bcar3 Is Expressed in Sertoli Cells and Germ Cells of the Developing Testis in Mice.
- Published in:
- Sexual Development, 2011, v. 5, n. 4, p. 197, doi. 10.1159/000328820
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- Publication type:
- Article
Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis.
- Published in:
- Sexual Development, 2010, v. 4, n. 4/5, p. 225, doi. 10.1159/000314958
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- Publication type:
- Article
New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD).
- Published in:
- Sexual Development, 2010, v. 4, n. 4/5, p. 213, doi. 10.1159/000314917
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- Publication type:
- Article
Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal.
- Published in:
- Sexual Development, 2010, v. 4, n. 3, p. 143, doi. 10.1159/000302403
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- Publication type:
- Article
WNT4 and RSPO1 Are Not Involved in a Case of Male-to-Female Sex Reversal with Partial Duplication of 1p.
- Published in:
- Sexual Development, 2007, v. 1, n. 2, p. 111, doi. 10.1159/000100032
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- Publication type:
- Article
Familial Translocation t(1;9) Associated with Macromastia: Molecular Cloning of the Breakpoints.
- Published in:
- Sexual Development, 2006, v. 1, n. 1, p. 35, doi. 10.1159/000096237
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- Publication type:
- Article
Molecular monitoring in NUP214-ABL-positive T-acute lymphoblastic leukemia reveals clonal diversity and helps to guide targeted therapy.
- Published in:
- Leukemia (08876924), 2014, v. 28, n. 2, p. 419, doi. 10.1038/leu.2013.272
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- Publication type:
- Article
Array‐comparative genomic hybridization analysis in patients with Müllerian fusion anomalies.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 3, p. 640, doi. 10.1111/cge.13160
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- Publication type:
- Article
Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 5, p. 590, doi. 10.1111/cge.12701
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- Publication type:
- Article
High reliability and sensitivity of the BCR/ABL1 D-FISH test for the detection of BCR/ABL rearrangements.
- Published in:
- Annals of Hematology, 2002, v. 81, n. 3, p. 147, doi. 10.1007/s00277-001-0424-5
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- Publication type:
- Article
CD34<sup>+</sup> lineage specific donor cell chimerism for the diagnosis and treatment of impending relapse of AML or myelodysplastic syndrome after allo-SCT.
- Published in:
- Bone Marrow Transplantation, 2013, v. 48, n. 8, p. 1070, doi. 10.1038/bmt.2013.2
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- Publication type:
- Article
Chimerism in a fertile woman with 46,XY karyotype and female phenotype.
- Published in:
- 2001
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- Publication type:
- journal article
Frequency of CFTR gene mutations in males participating in an ICSI programme.
- Published in:
- 1999
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- Publication type:
- journal article
Hirsutism, its pathogenesis.
- Published in:
- Human Reproduction, 1989, v. 4, n. 6, p. 601
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- Publication type:
- Article
Hirsutism, its pathogenesis.
- Published in:
- 1989
- By:
- Publication type:
- journal article
Analysis of the Wilms’ Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 7, p. E1131, doi. 10.1210/jc.2010-2804
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- Publication type:
- Article
Male infertility as a component of Carney complex.
- Published in:
- Andrologia, 2007, v. 39, n. 5, p. 196, doi. 10.1111/j.1439-0272.2007.00784.x
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- Publication type:
- Article
Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease.
- Published in:
- 1999
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- Publication type:
- journal article
Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies.
- Published in:
- 1999
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- Publication type:
- journal article
BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 5, p. 478, doi. 10.1111/j.1399-0004.2011.01788.x
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- Publication type:
- Article
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 6, p. 506, doi. 10.1111/j.1399-0004.2007.00905.x
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- Publication type:
- Article
Sex reversal in a child with the karyotype 46, XY, dup (1) (p22.3p32.3).
- Published in:
- Clinical Genetics, 1996, v. 49, n. 5, p. 271, doi. 10.1111/j.1399-0004.1996.tb03786.x
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- Publication type:
- Article
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
- Published in:
- 2005
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- Publication type:
- Journal Article
PLAG1 activation in lipoblastoma coinciding with low-level amplification of a derivative chromosome 8 with a deletion del(8)(q13q21.2).
- Published in:
- Cytogenetic & Genome Research, 2007, v. 119, n. 1/2, p. 33, doi. 10.1159/000109616
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- Publication type:
- Article
Distribution of sex chromosomes in dysgenetic gonads of mixed type.
- Published in:
- Cytogenetic & Genome Research, 2007, v. 116, n. 1/2, p. 146, doi. 10.1159/000097435
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- Publication type:
- Article
Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14.
- Published in:
- Cytogenetic & Genome Research, 2005, v. 108, n. 4, p. 283, doi. 10.1159/000081521
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- Publication type:
- Article
Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes.
- Published in:
- Cytogenetic & Genome Research, 2003, v. 103, n. 1/2, p. 47, doi. 10.1159/000076287
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- Publication type:
- Article
Mapping of a further locus for X-linked craniofrontonasal syndrome.
- Published in:
- Cytogenetic & Genome Research, 2002, v. 99, n. 1-4, p. 285, doi. 10.1159/000071605
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- Publication type:
- Article
Genetische Aspekte bei Störungen der Fertilität.
- Published in:
- Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz, 2013, v. 56, n. 12, p. 1642, doi. 10.1007/s00103-013-1860-9
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- Publication type:
- Article
Expression pattern and further characterization of human MAGED2 and identification of rodent orthologues.
- Published in:
- Cytogenetics & Cell Genetics, 2001, v. 94, n. 3/4, p. 233, doi. 10.1159/000048822
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- Publication type:
- Article
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome.
- Published in:
- Cytogenetics & Cell Genetics, 2001, v. 92, n. 3/4, p. 186, doi. 10.1159/000056900
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- Publication type:
- Article
Female pseudohermaphroditism caused by caudal dysgenesis.
- Published in:
- Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 296, doi. 10.1159/000056860
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- Publication type:
- Article