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Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Deterioration of myocardial tissue Doppler indices in a case of fetal hydrothorax as a promising indication for clinical intervention before the development of nonimmune hydrops fetalis.
- Published in:
- 2012
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- Publication type:
- Letter
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
- Published in:
- Human Genetics, 2010, v. 127, n. 6, p. 721, doi. 10.1007/s00439-010-0820-9
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- Publication type:
- Article
Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.
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- Human Genetics, 2000, v. 107, n. 5, p. 433, doi. 10.1007/s004390000377
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- Publication type:
- Article
Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features.
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- Human Genetics, 2000, v. 106, n. 3, p. 306, doi. 10.1007/s004390051042
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- Publication type:
- Article
Parturition failure in mice lacking Mamld1.
- Published in:
- Scientific Reports, 2015, p. 1, doi. 10.1038/srep14705
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- Publication type:
- Article
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 553, doi. 10.1038/jhg.2015.53
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- Publication type:
- Article
Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.
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- Journal of Human Genetics, 2015, v. 60, n. 4, p. 175, doi. 10.1038/jhg.2014.124
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- Publication type:
- Article
Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification.
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- Journal of Human Genetics, 2015, v. 60, n. 3, p. 127, doi. 10.1038/jhg.2014.115
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- Publication type:
- Article
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.
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- Journal of Human Genetics, 2015, v. 60, n. 2, p. 91, doi. 10.1038/jhg.2014.100
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- Publication type:
- Article
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 549, doi. 10.1038/jhg.2014.70
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- Publication type:
- Article
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
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- Journal of Human Genetics, 2014, v. 59, n. 6, p. 353, doi. 10.1038/jhg.2014.34
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- Publication type:
- Article
Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 3, p. 118, doi. 10.1038/jhg.2013.4
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- Publication type:
- Article
Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 10, p. 1850, doi. 10.1002/jbmr.4652
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- Publication type:
- Article
Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis.
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- FASEB Journal, 2013, v. 27, n. 8, p. 3198, doi. 10.1096/fj.12-222745
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- Publication type:
- Article
Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.
- Published in:
- 1999
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- Publication type:
- journal article
Hemodynamic assessment in a child with renovascular hypertension using time-resolved three-dimensional cine phase-contrast MRI.
- Published in:
- Journal of Magnetic Resonance Imaging, 2015, v. 41, n. 1, p. 165, doi. 10.1002/jmri.24522
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- Publication type:
- Article
Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.
- Published in:
- Human Reproduction, 2012, v. 27, n. 8, p. 2541, doi. 10.1093/humrep/des197
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- Publication type:
- Article
Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias.
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- Journal of Human Genetics, 2012, v. 57, n. 7, p. 434, doi. 10.1038/jhg.2012.48
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- Publication type:
- Article
Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure.
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- Journal of Human Genetics, 2012, v. 57, n. 7, p. 449, doi. 10.1038/jhg.2012.53
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- Publication type:
- Article
Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors.
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- Journal of Human Genetics, 2011, v. 56, n. 8, p. 566, doi. 10.1038/jhg.2011.59
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- Publication type:
- Article
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 91, doi. 10.1038/jhg.2010.142
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- Publication type:
- Article
Monozygotic female twins discordant for Silver–Russell syndrome and hypomethylation of the H19-DMR.
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- Journal of Human Genetics, 2008, v. 53, n. 10, p. 950, doi. 10.1007/s10038-008-0329-4
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- Publication type:
- Article
Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis.
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- Journal of Human Genetics, 2008, v. 53, n. 5, p. 454, doi. 10.1007/s10038-008-0269-z
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- Publication type:
- Article
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
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- Journal of Human Genetics, 2006, v. 51, n. 8, p. 706, doi. 10.1007/s10038-006-0015-3
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- Publication type:
- Article
Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes†.
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- Human Molecular Genetics, 2011, v. 20, n. 16, p. 3188, doi. 10.1093/hmg/ddr224
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- Publication type:
- Article
Exploration of hydroxymethylation in Kagami- Ogata syndrome caused by hypermethylation of imprinting control regions.
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- Clinical Epigenetics, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s13148-015-0124-y
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- Publication type:
- Article
Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region.
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- Genome Biology & Evolution, 2020, v. 12, n. 11, p. 1961, doi. 10.1093/gbe/evaa168
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- Publication type:
- Article
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1488, doi. 10.1038/ejhg.2015.13
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- Publication type:
- Article
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1062, doi. 10.1038/ejhg.2014.234
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- Publication type:
- Article
Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 6, p. 1300, doi. 10.3390/ijms18061300
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- Publication type:
- Article
GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly.
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- Asian Journal of Andrology, 2018, v. 20, n. 6, p. 629, doi. 10.4103/aja.aja_20_18
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- Publication type:
- Article
Diaphyseal medullary stenosis with malignant fibrous histiocytoma: Further evidence for loss of heterozygosity involving 9p21-22 in tumor tissue.
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- Genes, Chromosomes & Cancer, 2002, v. 33, n. 3, p. 326, doi. 10.1002/gcc.10023
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- Publication type:
- Article
Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: Molecular analysis in four patients.
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- Genes, Chromosomes & Cancer, 1999, v. 25, n. 1, p. 40, doi. 10.1002/(SICI)1098-2264(199905)25:1<40::AID-GCC6>3.0.CO;2-8
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- Publication type:
- Article
SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 3, doi. 10.1159/000444596
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- Publication type:
- Article
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 359, doi. 10.3390/genes13020359
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- Publication type:
- Article
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 12, p. 1455, doi. 10.15252/emmm.201606623
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- Publication type:
- Article
MAMLD1 and Differences/Disorders of Sex Development: An Update.
- Published in:
- Sexual Development, 2022, v. 16, n. 2/3, p. 126, doi. 10.1159/000519298
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- Publication type:
- Article
Phenotypic Variation in 46,XX Disorders of Sex Development due to the <bold><italic>NR5A1 </italic></bold>p.R92W Variant: A Sibling Case Report and Literature Review.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 284, doi. 10.1159/000485868
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- Publication type:
- Article
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
- Published in:
- Sexual Development, 2016, v. 10, n. 4, p. 205, doi. 10.1159/000448726
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- Publication type:
- Article
Copy Number Variations of the Azoospermia Factor Region and SRY Are Not Associated with the Risk of Hypospadias.
- Published in:
- Sexual Development, 2016, v. 10, n. 1, p. 12, doi. 10.1159/000444938
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- Publication type:
- Article
SOX3 Overdosage Permits Normal Sex Development in Females with Random X Inactivation.
- Published in:
- Sexual Development, 2015, v. 9, n. 3, p. 125, doi. 10.1159/000377653
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- Publication type:
- Article
Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.
- Published in:
- Sexual Development, 2015, v. 9, n. 3, p. 130, doi. 10.1159/000380842
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- Publication type:
- Article
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 928, doi. 10.1038/ejhg.2012.26
- By:
- Publication type:
- Article
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1019, doi. 10.1038/ejhg.2008.90
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- Publication type:
- Article
Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 36, doi. 10.1038/sj.ejhg.5201925
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- Publication type:
- Article
Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta.
- Published in:
- Nature Genetics, 2008, v. 40, n. 2, p. 243, doi. 10.1038/ng.2007.51
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- Publication type:
- Article
Corrigendum: Cxorf6 is a causative gene for hypospadias.
- Published in:
- 2007
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- Publication type:
- Correction notice
CXorf6 is a causative gene for hypospadias.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1369, doi. 10.1038/ng1900
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- Publication type:
- Article