• Issue

    Clinical Genetics: Volume 90, Issue 2

    103-187
    August 2016
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ISSUE INFORMATION

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Issue Information - Editorial Board

  • Page: 103
  • First Published: 13 July 2016

REVIEWS

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Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline

N.J.H. van Os,  N. Roeleveld,  C.M.R. Weemaes,  M.C.J. Jongmans,  G.O. Janssens,  A.M.R. Taylor,  N. Hoogerbrugge,  M.A.A.P. Willemsen, 
  • Pages: 105-117
  • First Published: 10 December 2015
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Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa

A.M. Rose,  S.S. Bhattacharya, 
  • Pages: 118-126
  • First Published: 08 February 2016

ORIGINAL ARTICLES

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Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

S. Tey,  A. Ahmad-Annuar,  A.P. Drew,  N. Shahrizaila,  G.A. Nicholson,  M.L. Kennerson, 
  • Pages: 127-133
  • First Published: 10 December 2015
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Spinocerebellar ataxia type 3/Machado–Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions

G.N. Souza,  N. Kersting,  A.C. Krum-Santos,  A.S.P. Santos,  G.V. Furtado,  D. Pacheco,  T.A. Gonçalves,  J.A. Saute,  L. Schuler-Faccini,  E.P. Mattos,  M.L. Saraiva-Pereira,  L.B. Jardim, 
  • Pages: 134-140
  • First Published: 23 December 2015
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Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China

S. Zeng,  J. Zeng,  M. He,  X. Zeng,  Y. Zhou,  Z. Liu,  K. Xia,  Q. Pan,  H. Jiang,  L. Shen,  X. Yan,  B. Tang,  J. Wang, 
  • Pages: 141-148
  • First Published: 10 December 2015
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Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population

D. Bi,  H. Wang,  Q. Shang,  Y. Xu,  F. Wang,  M. Chen,  C. Ma,  Y. Sun,  X. Zhao,  C. Gao,  L. Wang,  C. Zhu,  Q. Xing, 
  • Pages: 149-155
  • First Published: 07 January 2016
Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population

SHORT REPORTS

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Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3

E. Barca,  O. Musumeci,  F. Montagnese,  S. Marino,  F. Granata,  D. Nunnari,  L. Peverelli,  S. DiMauro,  C.M. Quinzii,  A. Toscano, 
  • Pages: 156-160
  • First Published: 27 January 2016
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3

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HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

D. Šafka Brožková,  J. Haberlová,  R. Mazanec,  J. Laštůvková,  P. Seeman, 
  • Pages: 161-165
  • First Published: 29 January 2016
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL

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Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion

T.A. Willis,  C.L. Wood,  J. Hudson,  T. Polvikoski,  R. Barresi,  H. Lochmüller,  K. Bushby,  V. Straub, 
  • Pages: 166-170
  • First Published: 17 November 2015
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Unclassifiable arrhythmic cardiomyopathy associated with Emery–Dreifuss caused by a mutation in FHL1

I. San Román,  M. Navarro,  F. Martínez,  L. Albert,  L. Polo,  J. Guardiola,  E. García-Molina,  C. Muñoz-Esparza,  J. M. López-Ayala,  M. Sabater-Molina,  J. R. Gimeno, 
  • Pages: 171-176
  • First Published: 09 February 2016
Unclassifiable arrhythmic cardiomyopathy associated with Emery–Dreifuss caused by a mutation in FHL1

Open Access

Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP

H.-Y. Jo,  M.-H. Park,  H.-M. Woo,  M.H. Han,  B.-Y. Kim,  B.-O. Choi,  K.W. Chung,  S.K. Koo, 
  • Pages: 177-181
  • First Published: 13 December 2015

Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP

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WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease

A.E. Covone,  C. Fiorillo,  M. Acquaviva,  F. Trucco,  G. Morana,  R. Ravazzolo,  C. Minetti, 
  • Pages: 182-185
  • First Published: 19 January 2016
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease

LETTERS TO THE EDITOR

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Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant

D. Salvatore,  D. Dell'Edera,  C. Colangelo,  G. Smaldore, 
  • Pages: 186-187
  • First Published: 09 February 2016
Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant