about
The 3M complex maintains microtubule and genome integrityVacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and boneMutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.A gene for Meckel syndrome maps to chromosome 11q13.Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionIn frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeDeletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotypeSHOX point mutations in dyschondrosteosisCongenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphismAllelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowthMutations in the NHEJ component XRCC4 cause primordial dwarfismHuman TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndromeHomozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.Central sleep apnea in children: experience at a single center.Genetic heterogeneity of Meckel syndrome.Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.The mutation spectrum in RECQL4 diseases.Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.Clinical and genetic heterogeneity of Seckel syndrome.A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34.Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.Further delineation of the KAT6B molecular and phenotypic spectrumA new lethal syndrome of exomphalos, short limbs, and macrogonadismEpiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.Spectrum of NSD1 mutations in Sotos and Weaver syndromesNIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresA Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.Functional disomy of the Xq28 chromosome region.
P50
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Valerie Cormier-Daire
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Valerie Cormier-Daire
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Valerie Cormier-Daire
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Valerie Cormier-Daire
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type
label
Valerie Cormier-Daire
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Valerie Cormier-Daire
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Valerie Cormier-Daire
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Valerie Cormier-Daire
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Valerie Cormier-Daire
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Valerie Cormier-Daire
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Valerie Cormier-Daire
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Valerie Cormier-Daire
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P106
P21
P31
P496
0000-0002-2839-9856