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Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 460, doi. 10.1038/ejhg.2012.186
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- Article
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 917, doi. 10.1038/ejhg.2012.35
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- Publication type:
- Article
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 454, doi. 10.1038/ejhg.2008.214
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- Article
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.
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- European Journal of Human Genetics, 2007, v. 15, n. 2, p. 242, doi. 10.1038/sj.ejhg.5201733
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- Publication type:
- Article
Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome.
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- European Journal of Human Genetics, 2000, v. 8, n. 8, p. 613, doi. 10.1038/sj.ejhg.5200508
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- Publication type:
- Article
Spectrum of Mutations of the AAAS Gene in Allgrove Syndrome: Lack of Mutations in Six Kindreds with Isolated Resistance to Corticotropin.
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- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5433, doi. 10.1210/jcem.86.11.8037
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- Article
Allgrove syndrome with features of familial dysautonomia: A novel mutation in the AAAS gene.
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- Acta Paediatrica, 2006, v. 95, n. 9, p. 1140, doi. 10.1080/08035250500538999
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- Article
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 23, p. 5265, doi. 10.1093/hmg/ddw333
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- Publication type:
- Article
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease
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- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0062519
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- Article
Segregation at three loci explains familial and population risk in Hirschsprung disease.
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- Nature Genetics, 2002, v. 31, n. 1, p. 89, doi. 10.1038/ng868
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- Article
Mutant WD-repeat protein in triple-A syndrome.
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- Nature Genetics, 2000, v. 26, n. 3, p. 332, doi. 10.1038/81642
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- Publication type:
- Article
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 17, p. 2051, doi. 10.1093/hmg/11.17.2051
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- Publication type:
- Article
Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
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- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1449, doi. 10.1093/hmg/7.9.1449
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- Publication type:
- Article
Heterozygous Endothelin Receptor B (EDNRBMutations in Isolated Hirschsprung Disease.
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- Human Molecular Genetics, 1996, v. 5, n. 3, p. 355, doi. 10.1093/hmg/5.3.355
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- Publication type:
- Article
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
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- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2407
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- Publication type:
- Article
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1381
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- Publication type:
- Article
A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease.
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- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1439
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- Publication type:
- Article
Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.
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- Human Mutation, 2009, v. 30, n. 5, p. 771, doi. 10.1002/humu.20944
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- Publication type:
- Article
Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers.
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- Prenatal Diagnosis, 1993, v. 13, n. 6, p. 435, doi. 10.1002/pd.1970130603
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- Publication type:
- Article
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1821, doi. 10.1002/ajmg.a.36539
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- Article
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
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- 2021
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- Publication type:
- journal article
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation (A videotape accompanies this article.).
- Published in:
- Movement Disorders, 2004, v. 19, n. 3, p. 344, doi. 10.1002/mds.10660
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- Publication type:
- Article
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3805, doi. 10.1093/hmg/ddz237
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- Publication type:
- Article