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Two Siblings with Mutation in the Leptin Receptor Gene.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
Two Siblings with Mutation in the Leptin Receptor Gene.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 68
- By:
- Publication type:
- Article
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0299-5
- By:
- Publication type:
- Article
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 84, doi. 10.1186/s13023-015-0299-5
- By:
- Publication type:
- Article
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
NEK1 mutations in familial amyotrophic lateral sclerosis.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.
- Published in:
- 2016
- By:
- Publication type:
- commentary
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Expanding the phenotype associated with biallelic <italic>WDR60</italic> mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 438, doi. 10.1002/ajmg.a.38562
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- Publication type:
- Article
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 187, doi. 10.1002/ajmg.a.38538
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- Publication type:
- Article
4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2289, doi. 10.1002/ajmg.a.38286
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- Publication type:
- Article
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1369, doi. 10.1002/ajmg.a.38164
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- Publication type:
- Article
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1202, doi. 10.1002/ajmg.a.37560
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- Publication type:
- Article
A Recurrent Synonymous KAT6B Mutation Causes Say-Barber-Biesecker/Young-Simpson Syndrome by Inducing Aberrant Splicing.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3006, doi. 10.1002/ajmg.a.37343
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- Publication type:
- Article
A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 670, doi. 10.1002/ajmg.a.36891
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- Publication type:
- Article
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1821, doi. 10.1002/ajmg.a.36539
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- Publication type:
- Article
Exon skipping and severe childhood-onset obesity caused by a leptin receptor mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2672, doi. 10.1002/ajmg.a.36125
- By:
- Publication type:
- Article
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 884, doi. 10.1002/ajmg.a.35848
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- Publication type:
- Article
A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation.
- Published in:
- Audiology & Neurotology, 2013, v. 18, n. 3, p. 192, doi. 10.1159/000350246
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- Publication type:
- Article
Estimated prevalence of potentially damaging variants in the leptin gene.
- Published in:
- Molecular & Cellular Pediatrics, 2017, v. 4, n. 1, p. 1, doi. 10.1186/s40348-017-0074-x
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- Publication type:
- Article
Genetic Causes of Goiter and Deafness: Pendred Syndrome in a Girl and Cooccurrence of Pendred Syndrome and Resistance to Thyroid Hormone in Her Sister.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 6, p. 2106, doi. 10.1210/jc.2008-2361
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- Publication type:
- Article
Goitrous Congenital Hypothyroidism and Hearing Impairment Associated with Mutations in the TPO and SLC26A4/PDS Genes.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 7, p. 2678, doi. 10.1210/jc.2006-0142
- By:
- Publication type:
- Article
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
- Published in:
- 2004
- By:
- Publication type:
- journal article
Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 6, p. 2916, doi. 10.1210/jc.2002-021334
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- Publication type:
- Article
Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 1, p. 27, doi. 10.1210/js.2018-00123
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- Publication type:
- Article
Mutations of PTPN23 in developmental and epileptic encephalopathy.
- Published in:
- Human Genetics, 2017, v. 136, n. 11/12, p. 1455, doi. 10.1007/s00439-017-1850-3
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- Publication type:
- Article
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
- Published in:
- Human Genetics, 2015, v. 134, n. 1, p. 45, doi. 10.1007/s00439-014-1487-4
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- Publication type:
- Article
Homozygous truncating PTPRF mutation causes athelia.
- Published in:
- Human Genetics, 2014, v. 133, n. 8, p. 1041, doi. 10.1007/s00439-014-1445-1
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- Publication type:
- Article
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
- Published in:
- Human Genetics, 2014, v. 133, n. 7, p. 939, doi. 10.1007/s00439-014-1436-2
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- Publication type:
- Article
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
- Published in:
- Human Genetics, 2012, v. 131, n. 2, p. 209, doi. 10.1007/s00439-011-1062-1
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- Publication type:
- Article
A mutation screen in patients with Kabuki syndrome.
- Published in:
- Human Genetics, 2011, v. 130, n. 6, p. 715, doi. 10.1007/s00439-011-1004-y
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- Publication type:
- Article
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
- Published in:
- Human Genetics, 2011, v. 129, n. 1, p. 45, doi. 10.1007/s00439-010-0896-2
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- Publication type:
- Article
Further delineation of the KAT6B molecular and phenotypic spectrum.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1165, doi. 10.1038/ejhg.2014.248
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- Publication type:
- Article
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 726, doi. 10.1038/ejhg.2013.222
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- Publication type:
- Article
Lipodystrophie-Erkrankungen.
- Published in:
- Medizinische Genetik, 2017, v. 29, n. 4, p. 374, doi. 10.1007/s11825-017-0162-2
- By:
- Publication type:
- Article
Zu viel Fett - zu wenig Fett.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Frühkindlicher BMI-Verlauf bei monogener Adipositas.
- Published in:
- Medizinische Genetik, 2017, v. 29, n. 4, p. 360, doi. 10.1007/s11825-017-0167-x
- By:
- Publication type:
- Article
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 1, p. 125, doi. 10.1530/EJE-11-0944
- By:
- Publication type:
- Article
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1107, doi. 10.1093/brain/awu022
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- Publication type:
- Article
Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 47, doi. 10.1111/cge.14509
- By:
- Publication type:
- Article
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome.
- Published in:
- Annals of Human Genetics, 2018, v. 82, n. 4, p. 232, doi. 10.1111/ahg.12244
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- Publication type:
- Article
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.539
- By:
- Publication type:
- Article
Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 6, p. 1007, doi. 10.1093/hmg/ddy412
- By:
- Publication type:
- Article
ILDR1null mice, amodel of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 3, p. 609, doi. 10.1093/hmg/ddu474
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- Publication type:
- Article
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1246, doi. 10.1002/humu.23567
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- Publication type:
- Article
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
- Published in:
- Human Mutation, 2017, v. 38, n. 4, p. 409, doi. 10.1002/humu.23170
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- Publication type:
- Article
Mutation Spectrum in RAB 3 GAP 1, RAB 3 GAP 2, and RAB 18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 686, doi. 10.1002/humu.22296
- By:
- Publication type:
- Article
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
- Published in:
- Human Mutation, 2008, v. 29, n. 7, p. 966, doi. 10.1002/humu.20531
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- Publication type:
- Article
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9478
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- Publication type:
- Article