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A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63815
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- Article
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants.
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- Pediatric & Developmental Pathology, 2020, v. 23, n. 3, p. 235, doi. 10.1177/1093526619881541
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- Article
Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase.
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- Journal of Perinatology, 2005, v. 25, n. 7, p. 491, doi. 10.1038/sj.jp.7211335
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- Article
Characterization of Point Mutations in Type I Collagen by RNA/RNA Hybrid Analysis.
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- Annals of the New York Academy of Sciences, 1990, v. 580, n. 1, p. 542, doi. 10.1111/j.1749-6632.1990.tb17985.x
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- Article
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 658, doi. 10.1002/ajmg.c.31753
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- Article
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 1, p. 44, doi. 10.1002/ajmg.c.31472
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- Article
Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1900, doi. 10.1002/ajmg.a.63226
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- Article
TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1261, doi. 10.1002/ajmg.a.63142
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- Article
Behavioral and cognitive functioning in individuals with Cantú syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2434, doi. 10.1002/ajmg.a.62348
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- Article
Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1053, doi. 10.1002/ajmg.a.61518
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- Article
Three‐dimensional facial morphology in Cantú syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1041, doi. 10.1002/ajmg.a.61517
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- Article
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1585, doi. 10.1002/ajmg.a.61200
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- Article
Automatic recognition of the XLHED phenotype from facial images.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2408, doi. 10.1002/ajmg.a.38343
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- Article
Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3048, doi. 10.1002/ajmg.a.37849
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- Article
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2652, doi. 10.1002/ajmg.a.37772
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- Article
Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 583, doi. 10.1002/ajmg.a.37445
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- Article
Myhre Syndrome: Clinical Features and Restrictive Cardiopulmonary Complications.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2893, doi. 10.1002/ajmg.a.37273
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- Article
Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1118, doi. 10.1002/ajmg.a.36401
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- Article
Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 2953, doi. 10.1002/ajmg.a.35886
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- Article
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
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- Scientific Reports, 2017, p. 41803, doi. 10.1038/srep41803
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- Article
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.
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- Human Genetics, 2019, v. 138, n. 6, p. 625, doi. 10.1007/s00439-019-02011-x
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- Article
Safety and immunogenicity of Fc‐EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.
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- British Journal of Clinical Pharmacology, 2020, v. 86, n. 10, p. 2063, doi. 10.1111/bcp.14301
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- Article
Intracranial Infantile Myofibromatosis with Intraparenchymal Involvement.
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- Pediatric Neurosurgery, 2002, v. 36, n. 4, p. 214, doi. 10.1159/000056059
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- Article
PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.
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- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 6, p. 424, doi. 10.1002/jmd2.12396
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- Article
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 367, doi. 10.1002/jmd2.12382
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- Article
Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.
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- 2023
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- Publication type:
- Case Study
Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 40, doi. 10.1002/jmd2.12165
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- Article
Effects of TP63 mutations on keratinocyte adhesion and migration.
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- Experimental Dermatology, 2023, v. 32, n. 9, p. 1575, doi. 10.1111/exd.14885
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- Article
A 3-Year-Old Girl with Acute Liver Failure and Status Epilepticus.
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- Clinical Chemistry, 2022, v. 68, n. 11, p. 1471, doi. 10.1093/clinchem/hvac128
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- Article
Siblings with a novel MED12 variant and Odho syndrome with immune defects.
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- Clinical Genetics, 2020, v. 98, n. 3, p. 308, doi. 10.1111/cge.13806
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- Article
Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-Like Phenotypes.
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- Journal of Investigative Dermatology, 2009, v. 129, n. 3, p. 553, doi. 10.1038/jid.2008.271
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- Article
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.
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- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 422, doi. 10.1002/mgg3.84
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- Article
A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome.
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- Journal of the American Heart Association, 2022, v. 11, n. 24, p. 1, doi. 10.1161/JAHA.122.027363
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- Article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
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- Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
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- Article
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5271, doi. 10.1093/hmg/ddu224
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- Article
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2589, doi. 10.1002/ajmg.a.34185
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- Article
Pilocytic astrocytoma in a child with Noonan syndrome.
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- Pediatric Blood & Cancer, 2009, v. 53, n. 6, p. 1147, doi. 10.1002/pbc.22193
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- Article
Survival among children with 'Lethal' congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene ( GLDN).
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1477, doi. 10.1002/humu.23297
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- Article
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 600, doi. 10.1002/humu.23183
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- Article
Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 809, doi. 10.1002/humu.22555
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- Publication type:
- Article
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
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- Human Mutation, 2012, v. 33, n. 1, p. 165, doi. 10.1002/humu.21614
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- Article
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
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- Human Mutation, 2007, v. 28, n. 9, p. 882, doi. 10.1002/humu.20536
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- Publication type:
- Article
Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia.
- Published in:
- Genes, 2023, v. 14, n. 1, p. 153, doi. 10.3390/genes14010153
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- Article
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0463-8
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- Article