698 results on '"Robertson, Stephen P."'
Search Results
202. A new acro-osteolysis syndrome caused by duplications including PTHLH
203. Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
204. Gain-of-function DNMT3Amutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
205. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome
206. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
207. Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification
208. Characterizing the oculoauriculofrontonasal syndrome
209. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
210. Obstructive Sleep Apnea Successfully Treated by Mandibular Distraction Osteogenesis in a Rare Skeletal Dysplasia
211. Severe osteopathia striata with cranial sclerosis in a female case with wholeWTXgene deletion
212. Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.
213. Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)
214. Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity
215. Neuropsychiatric Disease in Patients With Periventricular Heterotopia
216. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
217. TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
218. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome
219. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance
220. TGFBR1mutations associated with Loeys-Dietz syndrome are inactivating
221. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
222. A Case of Boomerang Dysplasia with a Novel Causative Mutation in Filamin B: Identification of Typical Imaging Findings on Ultrasonography and 3D-CT Imaging
223. High-fat diet alters weight, caloric intake, and haloperidol sensitivity in the context of effort-based responding
224. FLNA-filaminopathy skeletal phenotypes are not due to an osteoblast autonomous loss-of-function
225. A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia
226. Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid
227. The male phenotype in osteopathia striata congenita with cranial sclerosis
228. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)
229. Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome
230. RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape
231. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
232. Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction
233. Identification of CANT1 Mutations in Desbuquois Dysplasia
234. Disease-associated Substitutions in the Filamin B Actin Binding Domain Confer Enhanced Actin Binding Affinity in the Absence of Major Structural Disturbance: Insights from the Crystal Structures of Filamin B Actin Binding Domains
235. Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms
236. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
237. A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
238. Characterizing the oculoauriculofrontonasal syndrome
239. Maternal Psychological Reaction to Newborn Genetic Screening for Type 1 Diabetes
240. Phenotypic overlap in Melnick–Needles, serpentine fibula–polycystic kidney and Hajdu–Cheney syndromes: a clinical and molecular study in three patients
241. Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
242. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.
243. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome
244. Mutations in two regions ofFLNBresult in atelosteogenesis I and III
245. Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders
246. Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity
247. Molecular pathology of filamin A: diverse phenotypes, many functions
248. Mutations of ephrin-B1 ( EFNB1 ), a marker of tissue boundary formation, cause craniofrontonasal syndrome
249. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
250. Filamins and Disease.
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