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High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11).
- Published in:
- Genes, Chromosomes & Cancer, 2006, v. 45, n. 10, p. 945, doi. 10.1002/gcc.20358
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- Publication type:
- Article
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.
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- Human Molecular Genetics, 2012, v. 21, n. 21, p. 4669, doi. 10.1093/hmg/dds308
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- Publication type:
- Article
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1012, doi. 10.1038/ejhg.2012.290
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- Publication type:
- Article
Grußwort des Tagungspräsidenten.
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- Medizinische Genetik, 2018, v. 30, n. 1, p. 76
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- Publication type:
- Article
Rapid sexing of native amniotic cells by hybridization to a cloned Y chromosome DNA probe.
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- Journal of Perinatal Medicine, 1986, v. 14, n. 2, p. 127
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- Publication type:
- Article
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
- Published in:
- 2005
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- Publication type:
- Letter
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.
- Published in:
- Neurogenetics, 2004, v. 5, n. 1, p. 55, doi. 10.1007/s10048-003-0168-6
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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
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:
- Prenatal Diagnosis, 2013, v. 33, n. 1, p. 75, doi. 10.1002/pd.4012
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- Publication type:
- Article
Promoter CpG hypermethylation and downregulation of DICE1 expression in prostate cancer.
- Published in:
- Oncogene, 2005, v. 24, n. 44, p. 6667, doi. 10.1038/sj.onc.1208824
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- Publication type:
- Article
Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update.
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- Sexual Development, 2019, v. 13, n. 1, p. 35, doi. 10.1159/000496819
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- Publication type:
- Article
Four Novel <bold><italic>NR5A1</italic></bold> Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
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- Sexual Development, 2017, v. 11, n. 5/6, p. 248, doi. 10.1159/000484915
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- Publication type:
- Article
New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.
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- Sexual Development, 2017, v. 11, n. 1, p. 21, doi. 10.1159/000454974
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- Publication type:
- Article
Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in POF1B and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3).
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- Sexual Development, 2015, v. 9, n. 2, p. 86, doi. 10.1159/000373906
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- Publication type:
- Article
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 184, doi. 10.1038/sj.ejhg.5201968
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- Publication type:
- Article
Dispermic chimerism identified during blood group determination and HLA typing.
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- Transfusion, 2006, v. 46, n. 11, p. 1978, doi. 10.1111/j.1537-2995.2006.01005.x
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- Publication type:
- Article
Partial deletion of DMRT1 causes 46,XYovotesticular disorder of sexual development.
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- European Journal of Endocrinology, 2012, v. 167, n. 1, p. 119, doi. 10.1530/EJE-12-0136
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- Publication type:
- Article
Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history.
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- 2018
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- Publication type:
- journal article
The relevance of ANXA5 genetic variants on male fertility.
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- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 7, p. 1355, doi. 10.1007/s10815-019-01458-1
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- Publication type:
- Article
Maternal carriers of the ANXA5 M2 haplotype are exposed to a greater risk for placenta-mediated pregnancy complications.
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- Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 5, p. 921, doi. 10.1007/s10815-018-1142-4
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- Publication type:
- Article
Assessment of M2/ANXA5 haplotype as a risk factor in couples with placenta-mediated pregnancy complications.
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- Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 1, p. 157, doi. 10.1007/s10815-017-1041-0
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- Publication type:
- Article
Genetic analysis of the M2/ANXA5 haplotype as recurrent pregnancy loss predisposition in the Malay population.
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- Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 4, p. 517, doi. 10.1007/s10815-017-0871-0
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- Publication type:
- Article
Mosaicism for an unbalanced Y;21 translocation in an infertile man: a case report.
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- 2013
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- Publication type:
- Report
Pseudotrisomy 13: clinical findings and genetic implications.
- Published in:
- 2005
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- Publication type:
- journal article
Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 1, p. 42, doi. 10.1002/pd.1904
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- Publication type:
- Article
Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.
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- Prenatal Diagnosis, 2004, v. 24, n. 2, p. 111, doi. 10.1002/pd.803
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- Publication type:
- Article
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 10, p. 842, doi. 10.1002/1097-0223(200010)20:10<842::AID-PD915>3.0.CO;2-G
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- Publication type:
- Article
Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019426
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- Publication type:
- Article
Short Stature Homeobox-Containing Gene (SHOX): Genotype and Phenotype.
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- International Journal on Disability & Human Development (De Gruyter), 2001, v. 2, n. 3, p. 141, doi. 10.1515/ijdhd.2001.2.3.141
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- Publication type:
- Article
Fetal urinary tract obstructions: Prenatal diagnosis - prenatal and postnatal therapy.
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- Journal of Perinatal Medicine, 1991, v. 19, n. 5, p. 357
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- Publication type:
- Article
Prenatal diagnosis of Wiedemann-Beckwith syndrome.
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- Journal of Perinatal Medicine, 1989, v. 17, n. 5, p. 351
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- Publication type:
- Article
The Prenatal Diagnosis of Genetic Diseases.
- Published in:
- Deutsches Ärzteblatt International, 2010, v. 107, n. 48, p. 3
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- Publication type:
- Article
Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
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- 2007
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- Publication type:
- journal article
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
- Published in:
- European Journal of Pediatrics, 2001, v. 160, n. 9, p. 561
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- Publication type:
- Article
The impact of CFNS-causing EFNB1 mutations onephrin-B1 function.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 98, doi. 10.1186/1471-2350-11-98
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- Publication type:
- Article
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 59, doi. 10.1002/humu.20588
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- Publication type:
- Article
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
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- Human Mutation, 2005, v. 26, n. 2, p. 113, doi. 10.1002/humu.20193
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- Publication type:
- Article
Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome.
- Published in:
- Human Mutation, 1999, v. 13, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU16>3.0.CO;2-O
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- Publication type:
- Article
Mutations of the androgen receptor gene in patients with complete androgen insensitivity.
- Published in:
- Human Mutation, 1997, v. 9, n. 1, p. 57, doi. 10.1002/(SICI)1098-1004(1997)9:1<57::AID-HUMU10>3.0.CO;2-O
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- Publication type:
- Article
Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern].
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 87, doi. 10.2147/TACG.S307411
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- Publication type:
- Article
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).
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- Application of Clinical Genetics, 2008, v. 1, p. 19
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- Publication type:
- Article
Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.
- Published in:
- 2002
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- Publication type:
- journal article
Gain of androgen receptor gene copies in primary prostate cancer due to X chromosome polysomy.
- Published in:
- Prostate, 2004, v. 59, n. 1, p. 59, doi. 10.1002/pros.10356
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- Publication type:
- Article
Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1225, doi. 10.1002/mgg3.426
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- Publication type:
- Article
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 4, p. 709, doi. 10.1093/hmg/7.4.709
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- Publication type:
- Article
Pathophysiological Mechanisms of Dominant and Recessive KvLQT1 K+ Channel Mutations Found in Inherited Cardiac Arrhythmias.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1943, doi. 10.1093/hmg/6.11.1943
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- Publication type:
- Article
The mutational spectrum in Waardenburg syndrome.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2131
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- Publication type:
- Article
X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance.
- Published in:
- Clinical Genetics, 1985, v. 28, n. 3, p. 238, doi. 10.1111/j.1399-0004.1985.tb00392.x
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- Publication type:
- Article
Nome's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.
- Published in:
- Clinical Genetics, 1985, v. 27, n. 3, p. 282, doi. 10.1111/j.1399-0004.1985.tb00221.x
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- Publication type:
- Article