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X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 1, p. 55, doi. 10.1034/j.1399-0004.1999.550110.x
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- Publication type:
- Article
Orphanet Journal of Rare Diseases: Launch Editorial.
- Published in:
- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 1, doi. 10.1186/1750-1172-1-1
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- Publication type:
- Article
Ectodermal Dysplasia: a Clinical and Genetic.
- Published in:
- 1986
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- Publication type:
- Book Review
Patient Empowerment in Clinical Genetics Services.
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- Journal of Health Psychology, 2008, v. 13, n. 7, p. 895, doi. 10.1177/1359105308095063
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- Publication type:
- Article
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 957, doi. 10.1038/ng2063
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- Publication type:
- Article
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 411, doi. 10.1038/ng1321
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- Publication type:
- Article
Amniotic fluid acetylcholinesterase: a retrospective and prospective study of the qualitative method.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1982, v. 89, n. 2, p. 111, doi. 10.1111/j.1471-0528.1982.tb04675.x
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- Publication type:
- Article
Genetic contribution to neurodevelopmental disability: an overview.
- Published in:
- Developmental Medicine & Child Neurology, 2003, v. 45, p. 6, doi. 10.1111/j.1469-8749.2003.tb04646.x
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- Publication type:
- Article
Dhavendra Kumar (ed): Genomics and clinical medicine.
- Published in:
- 2009
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- Publication type:
- Book Review
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 368, doi. 10.1007/s00439-002-0815-2
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- Publication type:
- Article
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
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- Human Genetics, 2002, v. 110, n. 5, p. 422, doi. 10.1007/s00439-002-0709-3
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- Publication type:
- Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
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- Publication type:
- Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
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- Publication type:
- Article
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 18, doi. 10.1038/ejhg.2010.136
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- Publication type:
- Article
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.
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- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1095, doi. 10.1038/ejhg.2010.41
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- Publication type:
- Article
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 434, doi. 10.1038/ejhg.2008.192
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- Publication type:
- Article
What process attributes of clinical genetics services could maximise patient benefits?
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1467, doi. 10.1038/ejhg.2008.121
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- Publication type:
- Article
Williams–Beuren Syndrome: More or less? Segmental duplications and deletions in the Williams–Beuren syndrome region provide new insights into language development.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 507, doi. 10.1038/sj.ejhg.5201597
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- Publication type:
- Article
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 547, doi. 10.1038/sj.ejhg.5201374
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- Publication type:
- Article
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.
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- European Journal of Human Genetics, 2004, v. 12, n. 7, p. 551, doi. 10.1038/sj.ejhg.5201174
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- Publication type:
- Article
Professor Robin Michael Winter: 1950-2004. An appreciation.
- Published in:
- 2004
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- Publication type:
- Obituary
Elastin: mutational spectrum in supravalvular aortic stenosis.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 12, p. 955, doi. 10.1038/sj.ejhg.5200564
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- Publication type:
- Article
A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 737, doi. 10.1038/sj.ejhg.5200396
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- Publication type:
- Article
The expression of CD 18 is increased on Trisomy 21 (Down syndrome) lymphoblastoid cells.
- Published in:
- Clinical & Experimental Immunology, 1988, v. 71, n. 2, p. 324
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- Publication type:
- Article
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
- Published in:
- Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00012
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- Publication type:
- Article
Pierpont syndrome: A collaborative study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2203, doi. 10.1002/ajmg.a.34147
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- Publication type:
- Article
Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 296, doi. 10.1002/humu.22241
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- Publication type:
- Article
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1142, doi. 10.1002/humu.21328
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- Publication type:
- Article
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
- Published in:
- Human Mutation, 2008, v. 29, n. 8, p. 1017, doi. 10.1002/humu.20741
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- Publication type:
- Article
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
- Published in:
- Human Mutation, 2007, v. 28, n. 10, p. 968, doi. 10.1002/humu.20545
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- Publication type:
- Article
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.
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- Human Mutation, 2001, v. 18, n. 6, p. 535, doi. 10.1002/humu.1230
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- Publication type:
- Article
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
- Published in:
- Human Mutation, 1997, v. 9, n. 6, p. 512, doi. 10.1002/(SICI)1098-1004(1997)9:6<512::AID-HUMU3>3.0.CO;2-3
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- Publication type:
- Article
EYA4, a novel vertebrate gene related to Drosophila eyes absent.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 1, p. 11, doi. 10.1093/hmg/8.1.11
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- Publication type:
- Article
An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 6, p. 1021, doi. 10.1093/hmg/7.6.1021
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- Publication type:
- Article
Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 7, p. 1029, doi. 10.1093/hmg/6.7.1029
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- Publication type:
- Article
The Oral-Facial-Digital Syndrome Type 1 (OFD1), a Cause of Polycystic Kidney Disease and Associated Malformations, Maps to Xp22.2-Xp22.3.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 7, p. 1163, doi. 10.1093/hmg/6.7.1163
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- Publication type:
- Article
Localization of a Gene for Oculodentodigital Syndrome to Human Chromosome 6q22–q24.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 1, p. 123, doi. 10.1093/hmg/6.1.123
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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
Male to male transmission of the G syndrome.
- Published in:
- Clinical Genetics, 1983, v. 24, n. 6, p. 446, doi. 10.1111/j.1399-0004.1983.tb00101.x
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- Publication type:
- Article
Increased amniotic alphafetoprotein due to a holoacardium amorphous twin.
- Published in:
- Clinical Genetics, 1982, v. 21, n. 6, p. 382, doi. 10.1111/j.1399-0004.1982.tb01391.x
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- Publication type:
- Article