Whole exome sequencing unravels disease‐causing genes in consanguineous families in Qatar
S Fahiminiya, M Almuriekhi, Z Nawaz, A Staffa… - Clinical …, 2014 - Wiley Online Library
Whole exome sequencing (WES) has greatly facilitated the identification of causal mutations
for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to …
for diverse human genetic disorders. We applied WES as a molecular diagnostic tool to …
[HTML][HTML] A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
CK Cheon, HS Lee, SY Kim, MJ Kwak… - Annals of pediatric …, 2014 - ncbi.nlm.nih.gov
X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic
rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide …
rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide …
Identification of novel regulators of osteoblast matrix mineralization by time series transcriptional profiling
KA Staines, D Zhu, C Farquharson… - Journal of bone and …, 2014 - Springer
Bone mineralization is a carefully orchestrated process, regulated by a number of promoters
and inhibitors that function to ensure effective hydroxyapatite formation. Here we sought to …
and inhibitors that function to ensure effective hydroxyapatite formation. Here we sought to …
[PDF][PDF] 3 例低血磷性抗维生素D 佝偻病的基因诊断及文献复习
刘霜， 魏珉， 肖娟， 王长燕， 邱正庆 - 中国当代儿科杂志, 2014 - zgddek.com
对3 例临床疑似X 连锁低血磷抗维生素D 佝偻病(XLH) 患儿进行磷酸盐调节基因(PHEX)
分析并确诊的临床资料进行回顾性分析及相关文献复习, 探讨中国人存在的突变热点和突变类型 …
分析并确诊的临床资料进行回顾性分析及相关文献复习, 探讨中国人存在的突变热点和突变类型 …
Unusually severe hypophosphatemic rickets caused by a novel and complex re‐arrangement of the PHEX gene
T Pekkarinen, B Lorenz‐Depiereux… - American Journal of …, 2014 - Wiley Online Library
X‐linked hypophosphatemia (XLH) is caused by mutations in PHEX. Several other genetic
forms of hypophosphatemia have also been described. These disorders share variable …
forms of hypophosphatemia have also been described. These disorders share variable …
Genetic alterations: heritable dentin defects
A Bloch-Zupan - The Dental Pulp: Biology, Pathology, and Regenerative …, 2014 - Springer
Dentin defects that accompany rare genetic diseases (diseases that by definition affect less
than 1/2,000 individuals) can be described phenotypically by various types of anomalies that …
than 1/2,000 individuals) can be described phenotypically by various types of anomalies that …
Raquitismo Renal Hipofosfatémico Experiencia en 10 Años
GS Asato, HC Tacca, AM Bedriñana… - Revista Peruana de …, 2014 - pediatria.pe
Objetivos: Los objetivos del estudio son los siguientes: analizar la frecuencia de raquitismo
renal hipofosfatémico ligado al cromosoma X (XLH) en el lapso de 10 años, determinar …
renal hipofosfatémico ligado al cromosoma X (XLH) en el lapso de 10 años, determinar …
Raquitismo Hipofosfatémico Familiar Y Esporádico: Clínica Y Hallazgos Moleculares.
G Alonso, L Plantalech, R Guelman… - Actualizaciones en …, 2014 - ojs.osteologia.org.ar
Las alteraciones de los genes PHEX y FGF23 son las causas más estudiadas de
raquitismos hipofosfatémicos (RH). Ambas se heredan en forma ligada al X (RHLX) y …
raquitismos hipofosfatémicos (RH). Ambas se heredan en forma ligada al X (RHLX) y …
[PDF][PDF] Modulatoren des Phänotyps bei X-chromosomal vererbter hypophosphatämischer Rachitis
AS für experimentelle Endokrinologie, D Leiter, O Hiort - zhb.uni-luebeck.de
VII mg= Milligramm μmol= Mikromol ml= Milliliter mmol= Millimol mRNA= messenger RNA=
messenger ribonucleic acid MWU-Test= Mann-Whitney-U-Test NC= Nephrokalzinose ng …
messenger ribonucleic acid MWU-Test= Mann-Whitney-U-Test NC= Nephrokalzinose ng …