Found: 51
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Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
- Published in:
- Human Genetics, 2014, v. 133, n. 9, p. 1161, doi. 10.1007/s00439-014-1456-y
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- Publication type:
- Article
A locus for hereditary capillary malformations mapped on chromosome 5q.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 343, doi. 10.1007/s00439-002-0700-z
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- Publication type:
- Article
Genetic Analyses in Small-for-Gestational-Age Newborns.
- Published in:
- 2018
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- Publication type:
- journal article
Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients.
- Published in:
- 2017
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- Publication type:
- journal article
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 965, doi. 10.1007/s00439-024-02688-9
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- Publication type:
- Article
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1625, doi. 10.1038/ejhg.2009.77
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- Publication type:
- Article
Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 467, doi. 10.1038/ejhg.2008.197
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- Publication type:
- Article
Mutations in TBL1X Are Associated With Central Hypothyroidism.
- Published in:
- 2016
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- Publication type:
- journal article
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
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- Publication type:
- Article
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
- Published in:
- PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0232990
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- Publication type:
- Article
Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation.
- Published in:
- 2018
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- Publication type:
- Case Study
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 13, p. 2541, doi. 10.1093/hmg/ddx152
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- Publication type:
- Article
Chromosomal region 11p15 is associated with male factor subfertility*.
- Published in:
- Molecular Human Reproduction, 2003, v. 9, n. 10, p. 587, doi. 10.1093/molehr/gag081
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- Publication type:
- Article
A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0040858
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- Publication type:
- Article
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
- Published in:
- European Heart Journal, 2003, v. 24, n. 20, p. 1848, doi. 10.1016/S0195-668X(03)00466-4
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- Publication type:
- Article
KCNQ1OT1 hypomethylation: a novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
- Published in:
- 2012
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- Publication type:
- journal article
KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?
- Published in:
- Pediatric Blood & Cancer, 2012, v. 59, n. 3, p. 565, doi. 10.1002/pbc.23398
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- Publication type:
- Article
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1272, doi. 10.1038/ng.484
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- Publication type:
- Article
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 5, p. 467, doi. 10.1093/hmg/10.5.467
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- Publication type:
- Article
The Human Achaete-Scute Homologue 2 (ASCL2, HASH2) Maps to Chromosome 11p15.5, Close to IGF2 and is Expressed in Extravillus Trophoblasts.
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- Human Molecular Genetics, 1997, v. 6, n. 6, p. 859, doi. 10.1093/hmg/6.6.859
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- Publication type:
- Article
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
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- European Heart Journal, 2014, v. 35, n. 32, p. 2165, doi. 10.1093/eurheartj/ehu050
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- Publication type:
- Article
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
- Published in:
- 2019
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- Publication type:
- journal article
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 116, doi. 10.1002/jimd.12571
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- Publication type:
- Article
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
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- Publication type:
- Article
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1542, doi. 10.1002/humu.23303
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- Publication type:
- Article
Sodium Channelopathies: Do We Really Understand What's Going On?
- Published in:
- Journal of Cardiovascular Electrophysiology, 2011, v. 22, n. 5, p. 590, doi. 10.1111/j.1540-8167.2010.01892.x
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- Publication type:
- Article
Multiple complementary transcripts of pCMa1, a novel gene located at chromosome 11p15.1-2, and melanocytic cell transformation.
- Published in:
- Journal of Pathology, 2002, v. 197, n. 5, p. 668, doi. 10.1002/path.1152
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- Publication type:
- Article
Severe early‐onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1476, doi. 10.1002/ajmg.a.63154
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- Publication type:
- Article
5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 835, doi. 10.1002/ajmg.a.63068
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- Publication type:
- Article
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3814, doi. 10.1002/ajmg.a.62417
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- Publication type:
- Article
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1166, doi. 10.1002/ajmg.a.38652
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- Publication type:
- Article
Variants in KAT6A and pituitary anomalies.
- Published in:
- 2017
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- Publication type:
- Other
Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1383, doi. 10.1002/ajmg.a.38179
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- Publication type:
- Article
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2681, doi. 10.1002/ajmg.a.37800
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- Publication type:
- Article
Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1799, doi. 10.1002/ajmg.a.37673
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- Publication type:
- Article
Intellectual Disability and Hemizygous GPD 2 Mutation.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1044, doi. 10.1002/ajmg.a.35873
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- Publication type:
- Article
Increase in central striatal dopamine transporters in patients with Shwachman-Diamond syndrome: Additional evidence of a brain phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 102, doi. 10.1002/ajmg.a.35687
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- Publication type:
- Article
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1719, doi. 10.1002/ajmg.a.35406
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- Publication type:
- Article
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2578, doi. 10.1002/ajmg.a.34223
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- Publication type:
- Article
Two Siblings With a CDKL5 Mutation.
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- Journal of Child Neurology, 2015, v. 30, n. 11, p. 1515, doi. 10.1177/0883073815573317
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- Publication type:
- Article
Variable Clinical expressivity of STAT3 Mutation in Hyperimmunoglobulin E Syndrome: Genetic and Clinical Studies of Six Patients.
- Published in:
- Journal of Clinical Immunology, 2014, v. 34, n. 2, p. 163, doi. 10.1007/s10875-014-9988-4
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- Publication type:
- Article
Gender differences in the long QT syndrome: effects of β-adrenoceptor blockade
- Published in:
- Cardiovascular Research, 2002, v. 53, n. 3, p. 770, doi. 10.1016/S0008-6363(01)00477-1
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- Publication type:
- Article
Topotecan distribution in an anephric infant with therapy resistant bilateral Wilms tumor with a novel germline WT1 gene mutation.
- Published in:
- Cancer Chemotherapy & Pharmacology, 2008, v. 62, n. 6, p. 1039, doi. 10.1007/s00280-008-0694-x
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- Publication type:
- Article
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 6, p. 655, doi. 10.1111/cge.14498
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- Publication type:
- Article
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03323-6
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- Publication type:
- Article
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
- Published in:
- European Journal of Endocrinology, 2020, v. 182, n. 1, p. 47, doi. 10.1530/EJE-19-0678
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- Publication type:
- Article
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14240, doi. 10.3390/ijms241814240
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- Publication type:
- Article
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 13664, doi. 10.3390/ijms232213664
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- Publication type:
- Article
DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8001, doi. 10.3390/ijms23148001
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- Publication type:
- Article