Below are the most recent publications written about "Inheritance Patterns" by people in Profiles.
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B?ziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet ?, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot ?, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Pr?tet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL. Humans with inherited T?cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 2021 07 08; 184(14):3812-3828.e30.
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Chiu FPC, Wessagowit V, Cakmak MF, Doolan BJ, Kootiratrakarn T, Chaowalit P, Bunnag T, Simpson MA, McGrath JA, Onoufriadis A. Molecular basis and inheritance patterns of amyloidosis cutis dyschromica. Clin Exp Dermatol. 2020 Jul; 45(5):650-653.
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Supsrisunjai C, Hsu CK, Michael M, Duval C, Lee JYW, Yang HS, Huang HY, Chaikul T, Onoufriadis A, Steiner RA, Ari?ns RAS, Sarig O, Sprecher E, Eskin-Schwartz M, Samlaska C, Simpson MA, Calonje E, Parsons M, McGrath JA. Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas. J Invest Dermatol. 2020 03; 140(3):624-635.e7.
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Shirzadeh T, Saeidian AH, Bagherian H, Salehpour S, Setoodeh A, Alaei MR, Youssefian L, Samavat A, Touati A, Fallah MS, Vahidnezhad H, Karimipoor M, Azadmehr S, Raeisi M, Bandehi Sarhadi A, Zafarghandi Motlagh F, Jamali M, Zeinali Z, Abiri M, Zeinali S. Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population. J Inherit Metab Dis. 2018 11; 41(6):1159-1167.
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Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935.
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Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J. KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. J Invest Dermatol. 2016 09; 136(9):1897-1901.
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Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K. Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion. Am J Med Genet A. 2016 Mar; 170(3):559-64.
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Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA, Elefteriades JA. Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006 Oct; 82(4):1400-5.
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Sol-Church K, Stabley DL, Nicholson L, Gonzalez IL, Gripp KW. Paternal bias in parental origin of HRAS mutations in Costello syndrome. Hum Mutat. 2006 Aug; 27(8):736-41.
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Szewka AJ, Walsh LE, Boaz JC, Carvalho KS, Golomb MR. Chiari in the family: inheritance of the Chiari I malformation. Pediatr Neurol. 2006 Jun; 34(6):481-5.