Literature DB >> 13871358

An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

M BORJESON, H FORSSMAN, O LEHMANN.   

Abstract

Entities:  

Keywords:  ENDOCRINOLOGY/genetics; MENTAL DEFICIENCY/genetics

Mesh：

Year:  1962        PMID： 13871358     DOI： 10.1111/j.0954-6820.1962.tb04162.x

Source DB:  PubMed          Journal:  Acta Med Scand        ISSN： 0001-6101


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  30 in total

Review 1.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

Review 2.  Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

Authors:  Arezu Jahani-Asl; Cheng Cheng; Chi Zhang; Azad Bonni
Journal:  Neurobiol Dis       Date:  2016-09-12       Impact factor: 5.996

Review 3.  Seizures and X-linked intellectual disability.

Authors:  Roger E Stevenson; Kenton R Holden; R Curtis Rogers; Charles E Schwartz
Journal:  Eur J Med Genet       Date:  2012-02-08       Impact factor: 2.708

4.  Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

Authors:  J Crawford; K M Lower; R C M Hennekam; H Van Esch; A Mégarbané; S A Lynch; G Turner; J Gécz
Journal:  J Med Genet       Date:  2005-07-01       Impact factor: 6.318

5.  Somatic PHF6 mutations in 1760 cases with various myeloid neoplasms.

Authors:  T Mori; Y Nagata; H Makishima; M Sanada; Y Shiozawa; A Kon; T Yoshizato; A Sato-Otsubo; K Kataoka; Y Shiraishi; K Chiba; H Tanaka; K Ishiyama; S Miyawaki; H Mori; T Nakamaki; R Kihara; H Kiyoi; H P Koeffler; L-Y Shih; S Miyano; T Naoe; C Haferlach; W Kern; T Haferlach; S Ogawa; K Yoshida
Journal:  Leukemia       Date:  2016-08-01       Impact factor: 11.528

6.  Adult fragile X syndrome. Clinico-neuropathologic findings.

Authors:  R D Rudelli; W T Brown; K Wisniewski; E C Jenkins; M Laure-Kamionowska; F Connell; H M Wisniewski
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

7.  Structural and functional insights into the human Börjeson-Forssman-Lehmann syndrome-associated protein PHF6.

Authors:  Zhonghua Liu; Fudong Li; Ke Ruan; Jiahai Zhang; Yide Mei; Jihui Wu; Yunyu Shi
Journal:  J Biol Chem       Date:  2014-02-19       Impact factor: 5.157

8.  Radiation leukemia virus common integration at the Kis2 locus: simultaneous overexpression of a novel noncoding RNA and of the proximal Phf6 gene.

Authors:  Séverine Landais; Renaud Quantin; Eric Rassart
Journal:  J Virol       Date:  2005-09       Impact factor: 5.103

9.  PHF6 mutations in T-cell acute lymphoblastic leukemia.

Authors:  Pieter Van Vlierberghe; Teresa Palomero; Hossein Khiabanian; Joni Van der Meulen; Mireia Castillo; Nadine Van Roy; Barbara De Moerloose; Jan Philippé; Sara González-García; María L Toribio; Tom Taghon; Linda Zuurbier; Barbara Cauwelier; Christine J Harrison; Claire Schwab; Markus Pisecker; Sabine Strehl; Anton W Langerak; Jozef Gecz; Edwin Sonneveld; Rob Pieters; Elisabeth Paietta; Jacob M Rowe; Peter H Wiernik; Yves Benoit; Jean Soulier; Bruce Poppe; Xiaopan Yao; Carlos Cordon-Cardo; Jules Meijerink; Raul Rabadan; Frank Speleman; Adolfo Ferrando
Journal:  Nat Genet       Date:  2010-03-14       Impact factor: 38.330

10.  Clinical features and long term outcome of epilepsy in periventricular nodular heterotopia. Simple compared with plus forms.

Authors:  G d'Orsi; P Tinuper; F Bisulli; A Zaniboni; B Bernardi; G Rubboli; R Riva; R Michelucci; L Volpi; C A Tassinari; A Baruzzi
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-06       Impact factor: 10.154
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