Literature DB >> 34234302

Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al.

Nicoletta Resta1, Olga Calabrese2, Valentina Grossi3, Licia Lugli4, Cristiano Simone5,3, Carlotta Ranieri5, Marilidia Piglionica5, Martina Lepore Signorile3, Katia Rossi4, Diana Carli6, Alessandro Mussa6.   

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Year:  2021        PMID： 34234302     DOI： 10.1038/s41436-021-01256-0

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  8 in total

Review 1.  Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.

Authors:  Maureen Handoko; Lisa T Emrick; Jill A Rosenfeld; Xia Wang; Alyssa A Tran; Alicia Turner; John W Belmont; Brendan H Lee; Carlos A Bacino; Hsiao-Tuan Chao
Journal:  Am J Med Genet A       Date:  2018-12-19       Impact factor: 2.802

Review 2.  Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

Authors:  Kim M Keppler-Noreuil; Victoria E R Parker; Thomas N Darling; Julian A Martinez-Agosto
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-11-18       Impact factor: 3.908

3.  mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Authors:  G Gordo; J Tenorio; P Arias; F Santos-Simarro; S García-Miñaur; J C Moreno; J Nevado; E Vallespin; L Rodriguez-Laguna; R de Mena; I Dapia; M Palomares-Bralo; Á Del Pozo; K Ibañez; J C Silla; E Barroso; V L Ruiz-Pérez; V Martinez-Glez; P Lapunzina
Journal:  Clin Genet       Date:  2018-02-13       Impact factor: 4.438

4.  A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.

Authors:  Diana Carli; Giovanni Battista Ferrero; Anna Fusillo; Paola Coppo; Roberta La Selva; Federica Zinali; Simona Cardaropoli; Carlotta Ranieri; Matteo Iacoviello; Nicoletta Resta; Alessandro Mussa
Journal:  Clin Genet       Date:  2021-02-08       Impact factor: 4.438

5.  Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

Authors:  Rikke S Møller; Sarah Weckhuysen; Mathilde Chipaux; Elise Marsan; Valerie Taly; E Martina Bebin; Susan M Hiatt; Jeremy W Prokop; Kevin M Bowling; Davide Mei; Valerio Conti; Pierre de la Grange; Sarah Ferrand-Sorbets; Georg Dorfmüller; Virginie Lambrecq; Line H G Larsen; Eric Leguern; Renzo Guerrini; Guido Rubboli; Gregory M Cooper; Stéphanie Baulac
Journal:  Neurol Genet       Date:  2016-10-31

6.  Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.

Authors:  Ying-Bei Chen; Jianing Xu; Anders Jacobsen Skanderup; Yiyu Dong; A Rose Brannon; Lu Wang; Helen H Won; Patricia I Wang; Gouri J Nanjangud; Achim A Jungbluth; Wei Li; Virginia Ojeda; A Ari Hakimi; Martin H Voss; Nikolaus Schultz; Robert J Motzer; Paul Russo; Emily H Cheng; Filippo G Giancotti; William Lee; Michael F Berger; Satish K Tickoo; Victor E Reuter; James J Hsieh
Journal:  Nat Commun       Date:  2016-10-07       Impact factor: 14.919

7.  Brain somatic mutations in MTOR leading to focal cortical dysplasia.

Authors:  Jae Seok Lim; Jeong Ho Lee
Journal:  BMB Rep       Date:  2016-02       Impact factor: 4.778

Review 8.  A six-attribute classification of genetic mosaicism.

Authors:  Luis A Pérez-Jurado; Víctor L Ruiz Pérez; Antonio Torrelo; Nancy B Spinner; Rudolf Happle; Leslie G Biesecker; Pablo Lapunzina; Víctor Martínez-Glez; Jair Tenorio; Julián Nevado; Gema Gordo; Lara Rodríguez-Laguna; Marta Feito; Raúl de Lucas
Journal:  Genet Med       Date:  2020-07-14       Impact factor: 8.864
  8 in total

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