153 related articles for article (PubMed ID: 32701632)
1. A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.
Bupp C; Junewick J; Hess JL
Clin Dysmorphol; 2020 Oct; 29(4):214-216. PubMed ID: 32701632
[No Abstract] [Full Text] [Related]
2. Malan syndrome: Extension of genotype and phenotype spectrum.
Rai A; Narayanan DL; Phadke SR
Am J Med Genet A; 2018 Dec; 176(12):2896-2900. PubMed ID: 30548146
[TBL] [Abstract][Full Text] [Related]
3. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.
Martinez F; Marín-Reina P; Sanchis-Calvo A; Perez-Aytés A; Oltra S; Roselló M; Mayo S; Monfort S; Pantoja J; Orellana C
Pediatr Res; 2015 Nov; 78(5):533-9. PubMed ID: 26200704
[TBL] [Abstract][Full Text] [Related]
4. Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D; Neubauer D; Cormier-Daire V; Delrue MA; Dieux-Coeslier A; Hasegawa T; Holmberg EE; Koenig R; Krueger G; Schanze I; Seemanova E; Shaw AC; Vogt J; Volleth M; Reis A; Meinecke P; Hennekam RC; Zenker M
Hum Mutat; 2014 Sep; 35(9):1092-100. PubMed ID: 24924640
[TBL] [Abstract][Full Text] [Related]
5. Marshall-Smith syndrome.
Herman TE; Siegel MJ
J Perinatol; 2015 Apr; 35(4):307-9. PubMed ID: 25813678
[No Abstract] [Full Text] [Related]
6. Neonatal Marshall-Smith syndrome.
Gómez-Santos E; Lloreda-García JM; Fernández-Fructuoso JR; Martínez-Ferrández C; Leante-Castellanos JL; Fuentes-Gutiérrez C
Clin Dysmorphol; 2014 Apr; 23(2):42-44. PubMed ID: 24556605
[No Abstract] [Full Text] [Related]
7. NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
Gurrieri F; Cavaliere ML; Wischmeijer A; Mammì C; Neri G; Pisanti MA; Rodella G; Laganà C; Priolo M
Eur J Med Genet; 2015 Sep; 58(9):488-91. PubMed ID: 26193383
[TBL] [Abstract][Full Text] [Related]
8. Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation.
Aggarwal A; Nguyen J; Rivera-Davila M; Rodriguez-Buritica D
Eur J Med Genet; 2017 Jul; 60(7):391-394. PubMed ID: 28442439
[TBL] [Abstract][Full Text] [Related]
9. Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism.
van Balkom ID; Shaw A; Vuijk PJ; Franssens M; Hoek HW; Hennekam RC
J Intellect Disabil Res; 2011 Oct; 55(10):973-87. PubMed ID: 21790824
[TBL] [Abstract][Full Text] [Related]
10. Further delineation of Malan syndrome.
Priolo M; Schanze D; Tatton-Brown K; Mulder PA; Tenorio J; Kooblall K; Acero IH; Alkuraya FS; Arias P; Bernardini L; Bijlsma EK; Cole T; Coubes C; Dapia I; Davies S; Di Donato N; Elcioglu NH; Fahrner JA; Foster A; González NG; Huber I; Iascone M; Kaiser AS; Kamath A; Liebelt J; Lynch SA; Maas SM; Mammì C; Mathijssen IB; McKee S; Menke LA; Mirzaa GM; Montgomery T; Neubauer D; Neumann TE; Pintomalli L; Pisanti MA; Plomp AS; Price S; Salter C; Santos-Simarro F; Sarda P; Segovia M; Shaw-Smith C; Smithson S; Suri M; Valdez RM; Van Haeringen A; Van Hagen JM; Zollino M; Lapunzina P; Thakker RV; Zenker M; Hennekam RC
Hum Mutat; 2018 Sep; 39(9):1226-1237. PubMed ID: 29897170
[TBL] [Abstract][Full Text] [Related]
11. Variants in nuclear factor I genes influence growth and development.
Zenker M; Bunt J; Schanze I; Schanze D; Piper M; Priolo M; Gerkes EH; Gronostajski RM; Richards LJ; Vogt J; Wessels MW; Hennekam RC
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):611-626. PubMed ID: 31730271
[TBL] [Abstract][Full Text] [Related]
12. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.
Zhao J; Longo N; Lewis RG; Nicholas TJ; Boyden SE; Andrews A; Larson A; ; Bayrak-Toydemir P; Botto LD; Mao R
Am J Med Genet A; 2024 May; 194(5):e63516. PubMed ID: 38168088
[TBL] [Abstract][Full Text] [Related]
13. A pigmentary skin defect is a new finding in Marshall-Smith syndrome.
Passalacqua C; Melo C; Martín LM; Rojas F; Sanz P; Taucher SC; Aranibar L
Am J Med Genet A; 2011 Aug; 155A(8):2015-7. PubMed ID: 21739579
[TBL] [Abstract][Full Text] [Related]
14. Marshall-Smith syndrome and septo-optic dysplasia: an unreported association.
Travan L; Oretti C; Zennaro F; Demarini S
Am J Med Genet A; 2008 Aug; 146A(16):2138-40. PubMed ID: 18627063
[TBL] [Abstract][Full Text] [Related]
15. Neonatal death in Marshall-Smith syndrome.
Chatel C; Maazoul F; Sigaudy S; Fredouille C; Ayme S; Philip N
Genet Couns; 1998; 9(1):15-8. PubMed ID: 9555581
[TBL] [Abstract][Full Text] [Related]
16. The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
Dimitrov B; Balikova I; Bradinova I; Zahariev D; Popova A; Simeonov E; De Smet L; Devriendt K; Fryns JP
Genet Couns; 2005; 16(2):181-6. PubMed ID: 16080300
[No Abstract] [Full Text] [Related]
17. [Septo-optic dysplasia complex in a case].
Liu YP; Gao L; Cao RM; Wang LH
Zhonghua Er Ke Za Zhi; 2013 May; 51(5):394-5. PubMed ID: 23941853
[No Abstract] [Full Text] [Related]
18. Mosaic supernumerary r(8) syndrome.
Yilmaz S; Tarkan-Argüden Y; Kuru D; Deviren A; Karaman B; Yüksel A; Hacihanefioğlu S
Genet Couns; 2005; 16(2):187-90. PubMed ID: 16080301
[No Abstract] [Full Text] [Related]
19. Phenotype and natural history in Marshall-Smith syndrome.
Shaw AC; van Balkom ID; Bauer M; Cole TR; Delrue MA; Van Haeringen A; Holmberg E; Knight SJ; Mortier G; Nampoothiri S; Pušeljić S; Zenker M; Cormier-Daire V; Hennekam RC
Am J Med Genet A; 2010 Nov; 152A(11):2714-26. PubMed ID: 20949508
[TBL] [Abstract][Full Text] [Related]
20. Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Mulder PA; van Balkom IDC; Landlust AM; Priolo M; Menke LA; Acero IH; Alkuraya FS; Arias P; Bernardini L; Bijlsma EK; Cole T; Coubes C; Dapia I; Davies S; Di Donato N; Elcioglu NH; Fahrner JA; Foster A; González NG; Huber I; Iascone M; Kaiser AS; Kamath A; Kooblall K; Lapunzina P; Liebelt J; Lynch SA; Maas SM; Mammì C; Mathijssen IB; McKee S; Mirzaa GM; Montgomery T; Neubauer D; Neumann TE; Pintomalli L; Pisanti MA; Plomp AS; Price S; Salter C; Santos-Simarro F; Sarda P; Schanze D; Segovia M; Shaw-Smith C; Smithson S; Suri M; Tatton-Brown K; Tenorio J; Thakker RV; Valdez RM; Van Haeringen A; Van Hagen JM; Zenker M; Zollino M; Dunn WW; Piening S; Hennekam RC
J Intellect Disabil Res; 2020 Dec; 64(12):956-969. PubMed ID: 33034087
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
