scholarly article | Q13442814 |
P50 | author | Xiu-An Yang | Q61094070 |
Yajian Wang | Q90765645 | ||
P2093 | author name string | Deguo Liu | |
Deyun Liu | |||
P2860 | cites work | Evaluation of allelic expression of imprinted genes in adult human blood. | Q33735829 |
Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. | Q34233195 | ||
A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). | Q34236826 | ||
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes. | Q37965878 | ||
IGF2 and cancer | Q38147784 | ||
The 5th national survey on the physical growth and development of children in the nine cities of China: Anthropometric measurements of Chinese children under 7 years in 2015. | Q38856911 | ||
Diagnosis and management of Silver-Russell syndrome: first international consensus statement | Q38944123 | ||
Paternally Inherited IGF2 Mutation and Growth Restriction | Q40758391 | ||
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome | Q40964539 | ||
Bloom syndrome in short children born small for gestational age: a challenging diagnosis. | Q43690687 | ||
Reference ranges for serum IGF-1 and IGFBP-3 levels in Chinese children during childhood and adolescence | Q44345922 | ||
De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly | Q48164473 | ||
Parental imprinting of the mouse insulin-like growth factor II gene. | Q55052428 | ||
Regulation of the insulin-like growth factors and their binding proteins by glucocorticoid and growth hormone in nonislet cell tumor hypoglycemia | Q71710229 | ||
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome | Q72778462 | ||
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations | Q80341084 | ||
(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation? | Q83127099 | ||
No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disorders | Q86416557 | ||
P921 | main subject | Silver-Russell syndrome | Q2142496 |
P304 | page(s) | 105 | |
P577 | publication date | 2017-08-08 | |
P1433 | published in | Frontiers in Genetics | Q2499875 |
P1476 | title | De Novo Mutation of Paternal IGF2 Gene Causing Silver-Russell Syndrome in a Sporadic Patient | |
P478 | volume | 8 |
Q60930549 | Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report |
Q91846314 | Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action |
Q91708356 | Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome |
Q52340995 | Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea. |
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