Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

1999 ◽  
Vol 19 (10) ◽  
pp. 941-946 ◽  
Author(s):  
Frances J. D. Smith ◽  
Victor A. McKusick ◽  
Karl Nielsen ◽  
Ellen Pfendner ◽  
Jouni Uitto ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Keratin 16 ◽  
Pachyonychia Congenita

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma

2000 ◽  
Vol 9 (3) ◽  
pp. 170-177 ◽  
Author(s):  
F. J. D. Smith ◽  
M. P. Fisher ◽  
E. Healy ◽  
J. L. Rees ◽  
J. M. Bonifas ◽  
...  
Keyword(s):  
Protein Expression ◽  
Palmoplantar Keratoderma ◽  
Keratin 16 ◽  
Expression Studies ◽  
Pachyonychia Congenita

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

1999 ◽  
Vol 141 (6) ◽  
pp. 1010-1016 ◽  
Author(s):  
F.J.D. Smith ◽  
M. Del Monaco ◽  
P.M. Steijlen ◽  
C.S. Munro ◽  
M. Morvay ◽  
...  
Keyword(s):  
Keratin 16 ◽  
Proline Substitution ◽  
Substitution Mutations ◽  
Pachyonychia Congenita

Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene

2019 ◽  
Vol 179 (12) ◽  
pp. 2490-2493 ◽  
Author(s):  
Katherine R. Forster ◽  
Jody E. Hooper ◽  
Karin J. Blakemore ◽  
Ahmet A. Baschat ◽  
Julie Hoover‐Fong
Keyword(s):  
Prenatal Diagnosis ◽  
Snp Array ◽  
High Density ◽  
Desbuquois Dysplasia

Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing

2016 ◽  
Vol 35 (4) ◽  
pp. 282-285 ◽  
Author(s):  
Maryam Rafati ◽  
Faezeh Mohamadhashem ◽  
Azadeh Hoseini ◽  
Somayeh Darzi Ramandi ◽  
Saeed Reza Ghaffari
Keyword(s):  
Prenatal Diagnosis ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Tyrosinemia Type 1 ◽  
Generation Sequencing

A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1

2007 ◽  
Vol 21 (3) ◽  
pp. 351-355 ◽  
Author(s):  
H-L Zhou ◽  
S Yang ◽  
M Gao ◽  
X-Y Zhao ◽  
Y-G Zhu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Pachyonychia Congenita

14. Prenatal diagnosis of Acrofacial Dysostosis type 1 (Nager syndrome) by chromosomal microarray at the exon level

2021 ◽  
Vol 252-253 ◽  
pp. S5
Author(s):  
Holli M. Drendel ◽  
Carolyn Wilson ◽  
Pablo Sagaribay ◽  
Renee Casey ◽  
Elissa Barnes ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Microarray ◽  
Exon Level ◽  
Nager Syndrome

Prenatal diagnosis of type 1 fibular hemimelia

2014 ◽  
Vol 41 (4) ◽  
pp. 515-519 ◽  
Author(s):  
Zeynep Ilerisoy Yakut ◽  
Ali Ipek ◽  
Hatice Akkaya ◽  
Halil Arslan
Keyword(s):  
Prenatal Diagnosis ◽  
Fibular Hemimelia
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