Found: 33
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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. 1844, doi. 10.1093/brain/awac402
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- Publication type:
- Article
Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 3, p. 219, doi. 10.1159/000527215
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- Publication type:
- Article
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 5, p. 379, doi. 10.1111/cge.14198
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- Publication type:
- Article
Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome.
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- Molecular Syndromology, 2021, v. 12, n. 6, p. 342, doi. 10.1159/000517253
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- Publication type:
- Article
A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1‐related diseases.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 1, p. 84, doi. 10.1111/cge.13959
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- Publication type:
- Article
Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.
- Published in:
- Herz, 2021, v. 46, p. 94, doi. 10.1007/s00059-019-04883-1
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- Publication type:
- Article
FANCA Gene Mutations in North African Fanconi Anemia Patients.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.610050
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- Publication type:
- Article
Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1865, doi. 10.1002/ajmg.a.61730
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- Publication type:
- Article
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 14, p. 2378, doi. 10.1093/hmg/ddz060
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- Publication type:
- Article
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.
- Published in:
- Human Genetics, 2019, v. 138, n. 5, p. 455, doi. 10.1007/s00439-019-02003-x
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- Publication type:
- Article
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.
- Published in:
- Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000041
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- Publication type:
- Article
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 6, p. 319, doi. 10.1159/000494465
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- Publication type:
- Article
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. W1, p. W545, doi. 10.1093/nar/gky471
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- Publication type:
- Article
Rigid spine syndrome associated with sensory‐motor axonal neuropathy resembling Charcot–Marie‐Tooth disease is characteristic of <italic>Bcl‐2‐associated athanogene‐3</italic> gene mutations even without cardiac involvement
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- 2018
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- Publication type:
- journal article
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
- Published in:
- 2016
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- Publication type:
- commentary
The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004311
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- Publication type:
- Article
A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family.
- Published in:
- Annals of Human Genetics, 2013, v. 77, n. 4, p. 336, doi. 10.1111/ahg.12017
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- Publication type:
- Article
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)
- Published in:
- 2012
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- Publication type:
- Journal Article
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 141, doi. 10.1111/j.1529-8027.2012.00405.x
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- Publication type:
- Article
Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna.
- Published in:
- NeuroMolecular Medicine, 2012, v. 14, n. 1, p. 40, doi. 10.1007/s12017-012-8168-z
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- Publication type:
- Article
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.
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- Neurogenetics, 2011, v. 12, n. 1, p. 73, doi. 10.1007/s10048-010-0256-3
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- Publication type:
- Article
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1107, doi. 10.1038/ejhg.2010.82
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- Publication type:
- Article
Mutations in TREM2 lead to pure early-onset dementia without bone cysts.
- Published in:
- Human Mutation, 2008, v. 29, n. 9, p. E194, doi. 10.1002/humu.20836
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- Publication type:
- Article
Familial Mediterranean Fever In Lebanon: Founder Effects For Different MEFV Mutations.
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- Annals of Human Genetics, 2008, v. 72, n. 1, p. 41, doi. 10.1111/j.1469-1809.2007.00386.x
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- Publication type:
- Article
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
- Published in:
- NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 87, doi. 10.1385/NMM:8:1-2:87
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- Publication type:
- Article
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects.
- Published in:
- BMC Medical Genetics, 2004, v. 5, p. 1
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- Publication type:
- Article
Familial Mediterranean Fever: association of elevated IgD plasma levels with specific MEFV mutations.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 849, doi. 10.1038/sj.ejhg.5200725
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- Publication type:
- Article
Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous lebanese family.
- Published in:
- Annals of Neurology, 2001, v. 50, n. 2, p. 250, doi. 10.1002/ana.1286
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- Publication type:
- Article
Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
- Published in:
- Human Genetics, 2001, v. 108, n. 4, p. 328, doi. 10.1007/s004390100496
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- Publication type:
- Article
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
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- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 51, doi. 10.1038/sj.ejhg.5200574
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- Publication type:
- Article
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.
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- European Journal of Human Genetics, 2000, v. 8, n. 9, p. 704
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- Publication type:
- Article
W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.
- Published in:
- Human Mutation, 2000, v. 15, n. 6, p. 583, doi. 10.1002/1098-1004(200006)15:6<583::AID-HUMU24>3.0.CO;2-X
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- Publication type:
- Article
Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.
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- Human Mutation, 2000, v. 15, n. 4, p. 384, doi. 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U
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- Publication type:
- Article