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Quoted phrase not found in phrase index: "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"
Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D,… See abstract for full author list ➔ Saffari A, et al. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders …
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant …
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al. Niikawa N, et al. Am J Med Genet. 1988 Nov;31(3):565-89. doi: 10.1002/ajmg.1320310312. Am J Med Genet. 1988. PMID: 3067577 Review.
Thus the core of the phenotypic spectrum of KMS is rather narrow and clearly defined. Many other inconsistent anomalies were observed. Important among them were early breast development in infant girls (23%), and congenital heart defects (31%), …
Thus the core of the phenotypic spectrum of KMS is rather narrow and clearly defined. Many other inconsistent anomalies were obser …
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.
Vinci M, Kursula P, Greco D, Elia M, Vetri L, Schepis C, Chiavetta V, Donadio S, Roccella M, Carotenuto M, Romano V, Calì F. Vinci M, et al. Mol Genet Genomic Med. 2022 Sep;10(9):e2012. doi: 10.1002/mgg3.2012. Epub 2022 Jul 5. Mol Genet Genomic Med. 2022. PMID: 35789128 Free PMC article.
METHODS: Here, we report a female 24-year-old patient diagnosed with a cardio-facio-cutaneous-like phenotype (CFC-like), characterized by epilepsy, psychomotor development delay, atopic dermatitis, congenital heart disease, hypotonia, and facial dysmorphism, who is …
METHODS: Here, we report a female 24-year-old patient diagnosed with a cardio-facio-cutaneous-like phenotype (CFC-like), characterized by ep …
Cardio-facio-cutaneous syndrome with BRAF gene mutation: A case report and literature review.
Chen B, Chen S, Xiong J, Yin F. Chen B, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Apr 28;46(4):432-437. doi: 10.11817/j.issn.1672-7347.2021.190756. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 33967092 Free PMC article. Review. Chinese, English.
Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. ...There is no effective therapy for this disease so far. Cardio-facio-cutaneous (CFC) syndrome is an extremely rare …
Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gen …
Autosomal dominant mannose-binding lectin deficiency is associated with worse neurodevelopmental outcomes after cardiac surgery in infants.
Kim DS, Li YK, Kim JH, Bergquist CS, Gerdes M, Bernbaum JC, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Nickerson DA, Hakonarson H, Jarvik GP, Gaynor JW. Kim DS, et al. J Thorac Cardiovasc Surg. 2018 Mar;155(3):1139-1147.e2. doi: 10.1016/j.jtcvs.2017.08.035. Epub 2017 Dec 7. J Thorac Cardiovasc Surg. 2018. PMID: 29452463 Free PMC article.
METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who underwent cardiac surgery with cardiopulmonary bypass before age 6 months (n = 295). ...CONCLUSIONS: We report the novel finding that carr …
METHODS: This is an analysis of a previously described cohort of patients with nonsyndromic congenital heart disease who under …
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Ockeloen CW, et al. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424714 Free PMC article.
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. ...One-third of patients presented with (conductive) h …
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome …
Prenatal features of Noonan syndrome: prevalence and prognostic value.
Baldassarre G, Mussa A, Dotta A, Banaudi E, Forzano S, Marinosci A, Rossi C, Tartaglia M, Silengo M, Ferrero GB. Baldassarre G, et al. Prenat Diagn. 2011 Oct;31(10):949-54. doi: 10.1002/pd.2804. Epub 2011 Jul 11. Prenat Diagn. 2011. PMID: 21744363
OBJECTIVE: Noonan syndrome (NS) is a common autosomal dominant developmental disorder, mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. ...Abnormal maternal serum triple screen …
OBJECTIVE: Noonan syndrome (NS) is a common autosomal dominant developmental disorder, mainly characterized by conge …
Novel mosaic TRAF7 likely pathogenic variant in an African American family.
Colleran JA, Daykin EC, Hernandez C, Ray J, Morand M. Colleran JA, et al. Am J Med Genet A. 2023 Jul;191(7):1990-1993. doi: 10.1002/ajmg.a.63214. Epub 2023 Apr 17. Am J Med Genet A. 2023. PMID: 37067385
Pathogenic variants in TRAF7 are often de novo and features of individuals harboring these variants are characterized by neurodevelopmental delay, ptosis, cardiac defects, limb anomalies, and dysmorphic features. We present a familial case in two African Amer …
Pathogenic variants in TRAF7 are often de novo and features of individuals harboring these variants are characterized by neurodevelopmental …
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ. Hannibal MC, et al. Am J Med Genet A. 2011 Jul;155A(7):1511-6. doi: 10.1002/ajmg.a.34074. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671394 Free PMC article.
Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the r …
Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomali …
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation.
Karaer K, Lissewski C, Zenker M. Karaer K, et al. Am J Med Genet A. 2015 Feb;167A(2):385-8. doi: 10.1002/ajmg.a.36429. Epub 2014 Dec 8. Am J Med Genet A. 2015. PMID: 25487361
It is typically characterized by congenital heart defects, short stature, dysmorphic craniofacial features, intellectual disability, failure to thrive, and ectodermal abnormalities such as hyperkeratosis and sparse, brittle, curly hair. CFC s …
It is typically characterized by congenital heart defects, short stature, dysmorphic craniofacial features, intellec …
19 results