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Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
- Published in:
- 2010
- By:
- Publication type:
- journal article
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
- Published in:
- 2013
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- Publication type:
- journal article
New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 22, p. 8611, doi. 10.3390/ijms21228611
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- Publication type:
- Article
Novel homozygous LAMB1 in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2656, doi. 10.1002/ajmg.a.63349
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- Publication type:
- Article
Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2862, doi. 10.1002/ajmg.a.40634
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- Publication type:
- Article
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2736, doi. 10.1002/ajmg.a.38359
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- Publication type:
- Article
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2545, doi. 10.1002/ajmg.a.38348
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- Publication type:
- Article
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2394, doi. 10.1002/ajmg.a.37785
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- Publication type:
- Article
Tentative Clinical Diagnosis of Lujan-Fryns Syndrome--A Conglomeration of Different Genetic Entities?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 94, doi. 10.1002/ajmg.a.37378
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- Publication type:
- Article
Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2406, doi. 10.1002/ajmg.a.37178
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- Publication type:
- Article
Interstitial duplication of chromosome region 1q25.1q25.3: Report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 653, doi. 10.1002/ajmg.a.36943
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- Publication type:
- Article
Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 620, doi. 10.1002/ajmg.a.36321
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- Publication type:
- Article
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1915, doi. 10.1002/ajmg.a.36030
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- Publication type:
- Article
12q24.33 deletion: Report of a patient with intellectual disability and review of the literature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1409, doi. 10.1002/ajmg.a.35877
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- Publication type:
- Article
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1207, doi. 10.1002/ajmg.a.35850
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- Publication type:
- Article
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 860, doi. 10.1002/ajmg.a.35778
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- Publication type:
- Article
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2587, doi. 10.1002/ajmg.a.35562
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- Publication type:
- Article
Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1709, doi. 10.1002/ajmg.a.35398
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- Publication type:
- Article
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3067, doi. 10.1002/ajmg.a.34291
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- Publication type:
- Article
Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2771, doi. 10.1002/ajmg.a.34230
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- Publication type:
- Article
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
- Published in:
- Nature Genetics, 2003, v. 35, n. 4, p. 313, doi. 10.1038/ng1264
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- Publication type:
- Article
Deep clinical phenotyping of patients with obsessive-compulsive disorder: an approach towards detection of organic causes and first results.
- Published in:
- Translational Psychiatry, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41398-023-02368-8
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- Publication type:
- Article
De novo partial deletion in GRID2 presenting with complicated spastic paraplegia.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 2, p. 289, doi. 10.1002/mus.24096
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- Publication type:
- Article
Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.
- Published in:
- Human Genetics, 2013, v. 132, n. 4, p. 461, doi. 10.1007/s00439-012-1260-5
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- Publication type:
- Article
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
- Published in:
- Human Genetics, 2011, v. 129, n. 2, p. 141, doi. 10.1007/s00439-010-0907-3
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- Publication type:
- Article
Mutations in autism susceptibility candidate 2 ( AUTS2) in patients with mental retardation.
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- Human Genetics, 2007, v. 121, n. 3/4, p. 501, doi. 10.1007/s00439-006-0284-0
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- Publication type:
- Article
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
- Published in:
- Human Genetics, 2007, v. 121, n. 1, p. 43, doi. 10.1007/s00439-006-0292-0
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- Publication type:
- Article
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome.
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- Human Genetics, 2006, v. 120, n. 2, p. 171, doi. 10.1007/s00439-006-0210-5
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- Publication type:
- Article
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
- Published in:
- Human Genetics, 2006, v. 118, n. 6, p. 708, doi. 10.1007/s00439-005-0104-y
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- Publication type:
- Article
Next-generation sequencing in X-linked intellectual disability.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5
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- Publication type:
- Article
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1349, doi. 10.1038/ejhg.2013.86
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- Publication type:
- Article
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.
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- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 887, doi. 10.1038/ejhg.2012.267
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- Publication type:
- Article
Isolated NIPBL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
- Published in:
- 2012
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- Publication type:
- Correction Notice
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 271, doi. 10.1038/ejhg.2011.175
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- Publication type:
- Article
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 717, doi. 10.1038/ejhg.2010.244
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- Publication type:
- Article
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 115, doi. 10.1038/ejhg.2010.132
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- Publication type:
- Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
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- Publication type:
- Article
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 291, doi. 10.1038/ejhg.2009.163
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- Publication type:
- Article
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
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- Publication type:
- Article
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
- Published in:
- 2009
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- Publication type:
- Correction Notice
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208
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- Publication type:
- Article
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.
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- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 125, doi. 10.1038/ejhg.2008.159
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- Publication type:
- Article
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66
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- Publication type:
- Article
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 2, p. 270, doi. 10.1038/sj.ejhg.5201967
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- Publication type:
- Article
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 68, doi. 10.1038/sj.ejhg.5201714
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- Publication type:
- Article
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1317, doi. 10.1038/sj.ejhg.5201707
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- Publication type:
- Article
X-chromosomale Intelligenzminderung.
- Published in:
- Medizinische Genetik, 2018, v. 30, n. 3, p. 328, doi. 10.1007/s11825-018-0207-1
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- Publication type:
- Article
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.
- Published in:
- European Journal of Endocrinology, 2018, v. 178, n. 2, p. K1, doi. 10.1530/EJE-17-0714
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- Publication type:
- Article
Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.
- Published in:
- 2016
- By:
- Publication type:
- Report
Correction: Diagnostic value of partial exome sequencing in developmental disorders.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice