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Two pregnancies in a woman with Williams syndrome.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2004, v. 111, n. 5, p. 511, doi. 10.1111/j.1471-0528.2004.00109.x
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- Article
DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins.
- Published in:
- 2010
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- Publication type:
- journal article
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases.
- Published in:
- Clinical Genetics, 1994, v. 46, n. 2, p. 168, doi. 10.1111/j.1399-0004.1994.tb04219.x
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- Article
Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 11, p. e2001, doi. 10.1210/clinem/dgae074
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- Article
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21712-4
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- Article
A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 383, doi. 10.1002/ajmg.a.63448
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- Article
A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith‐Wiedemann and Temple syndromes.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1896, doi. 10.1002/ajmg.a.62717
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- Article
Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 871, doi. 10.1002/ajmg.a.62016
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- Article
Temple Syndrome as a Result of Isolated Hypomethylation of the 14q32 Imprinted DLK1/MEG3 Region.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 170, doi. 10.1002/ajmg.a.37400
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- Article
Elements of morphology: General terms for congenital anomalies.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2726, doi. 10.1002/ajmg.a.36249
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- Article
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2174, doi. 10.1002/ajmg.a.36049
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- Article
Corrigendum: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
- Published in:
- Nature Genetics, 2014, v. 46, n. 6, p. 657, doi. 10.1038/ng0614-657c
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- Article
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
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- Nature Genetics, 2014, v. 46, n. 4, p. 385, doi. 10.1038/ng.2917
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- Article
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
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- Nature Genetics, 2008, v. 40, n. 8, p. 949, doi. 10.1038/ng.187
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- Article
A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY 9.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 4, p. 371, doi. 10.1002/(SICI)1097-0223(199604)16:4<371::AID-PD866>3.0.CO;2-S
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- Article
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
- Published in:
- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01259-x
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- Article
Quality of life after repair of tetralogy of Fallot.
- Published in:
- 2002
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- Publication type:
- journal article
Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086940
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- Article
Permanent Neonatal Diabetes due to Paternal Germline Mosaicism for an Activating Mutation of the KCNJ11 Gene Encoding the Kir6.2 Subunit of the β-Cell Potassium Adenosine Triphosphate Channel.
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 8, p. 3932, doi. 10.1210/jc.2004-0568
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- Article
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 255, doi. 10.1007/s00439-004-1236-1
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- Article
Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 290, doi. 10.1007/s00439-002-0787-2
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- Article
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 494, doi. 10.1038/ejhg.2014.133
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- Article
Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.
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- European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.27
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- Article
Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.132
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- Article
Evidence for anticipation in Beckwith-Wiedemann syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1344, doi. 10.1038/ejhg.2013.71
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- Article
Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 240, doi. 10.1038/ejhg.2011.166
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- Article
An atypical case of hypomethylation at multiple imprinted loci.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 360, doi. 10.1038/ejhg.2010.218
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- Article
Clinical utility gene card for: Silver-Russell syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.202
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- Article
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci.
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- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 648, doi. 10.1038/ejhg.2009.246
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- Article
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 611, doi. 10.1038/ejhg.2008.233
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- Article
Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.
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- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 453, doi. 10.1038/sj.ejhg.5201993
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- Article
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort.
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- European Journal of Human Genetics, 2005, v. 13, n. 6, p. 716, doi. 10.1038/sj.ejhg.5201377
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- Article
Evaluation of NSD2 and NSD3 in overgrowth syndromes.
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- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201298
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- Article
Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.
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- European Journal of Human Genetics, 2004, v. 12, n. 10, p. 790, doi. 10.1038/sj.ejhg.5201252
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- Article
Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 11/12, p. 1279, doi. 10.1515/jpem-2015-0170
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- Article
Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon.
- Published in:
- 2004
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- Publication type:
- journal article
β-Cell Dysfunction in Classic Transient NeonatalDiabetes Is Characterized by Impaired Insulin Responseto Glucose but Normal Response to Glucagon.
- Published in:
- Diabetes Care, 2004, v. 27, n. 10, p. 2405, doi. 10.2337/diacare.27.10.2405
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- Article
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8086, doi. 10.1038/ncomms9086
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- Article
Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders.
- Published in:
- Molecular Diagnosis & Therapy, 2022, v. 26, n. 3, p. 263, doi. 10.1007/s40291-022-00587-1
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- Publication type:
- Article
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2018, v. 90, n. 6, p. 407, doi. 10.1159/000496700
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- Article
Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
- Published in:
- 2008
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- Publication type:
- journal article
Mosaic Paternal Uniparentat Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and Hemihypertrophy.
- Published in:
- Diabetes, 2008, v. 57, n. 1, p. 255, doi. 10.2337/db07-0999
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- Article
Transient Neonatal Diabetes.
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- Diabetes, 2000, v. 49, n. 8, p. 1359, doi. 10.2337/diabetes.49.8.1359
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- Article
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 1011, doi. 10.1002/humu.22606
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- Article
Relapsing diabetes can result from moderately activating mutations in KCNJ11.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 7, p. 925, doi. 10.1093/hmg/ddi086
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- Article
Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.
- Published in:
- Clinical Epigenetics, 2015, v. 7, p. 1, doi. 10.1186/s13148-015-0143-8
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- Publication type:
- Article
Role of Noninsulin Therapies Alone or in Combination in Chromosome 6q24-Related Transient Neonatal Diabetes: Sulfonylurea Improves but Does Not Always Normalize Insulin Secretion.
- Published in:
- Diabetes Care, 2015, v. 38, n. 6, p. e86, doi. 10.2337/dc14-3056
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- Article
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.
- Published in:
- Human Mutation, 2001, v. 18, n. 6, p. 535, doi. 10.1002/humu.1230
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- Article
Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment.
- Published in:
- Clinical Endocrinology, 2022, v. 97, n. 3, p. 284, doi. 10.1111/cen.14715
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- Article
Further Evidence for an Imprinted Gene for Neonatal Diabetes Localised to Chromosome 6q22–q23.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 8, p. 1117, doi. 10.1093/hmg/5.8.1117
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- Article