| 1 |
Case of 15q26-qter deletion associated with a Prader-Willi phenotype.
61
|
Santos JFD...Carvalho AFL
|
32473228 |
2020 |
| 2 |
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
61
|
Inoue T...Kagami M
|
32546215 |
2020 |
| 3 |
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.
61
|
Yamazawa K...Kagami M
|
32576657 |
2020 |
| 4 |
Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State.
61
|
Mehta N...Oliveira JL
|
32552204 |
2020 |
| 5 |
A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family.
61
|
Fu J...Fu J
|
32449591 |
2020 |
| 6 |
Maternal uniparental disomy of chromosome 4 indicated by allele copy number of short tandem repeats.
61
|
Liu QL...Lu DJ
|
32199309 |
2020 |
| 7 |
Multiple methods used for type detection of uniparental disomy in paternity testing.
61
|
Su H...Yun K
|
31807870 |
2020 |
| 8 |
Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome.
61
|
Patti G...Di Iorgi N
|
31665337 |
2020 |
| 9 |
Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome.
61
|
Lane C...Freeth M
|
31599634 |
2020 |
| 10 |
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant.
61
|
Zhang P...Wang H
|
31985178 |
2020 |
| 11 |
Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome.
61
|
Chen CP...Wang W
|
32127154 |
2020 |
| 12 |
E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1.
61
|
Wang Y...Zhao X
|
31953711 |
2020 |
| 13 |
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
61
|
Lokulo-Sodipe O...Temple IK
|
32054688 |
2020 |
| 14 |
Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.
61
|
Yang L...Zou C
|
31964399 |
2020 |
| 15 |
Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome.
61
|
Oldzej J...Kimonis VE
|
31782896 |
2020 |
| 16 |
Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia.
61
|
Chen M...Li S
|
31793236 |
2020 |
| 17 |
Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome.
61
|
Giabicani E...Netchine I
|
31655321 |
2019 |
| 18 |
Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD).
61
|
Kim BY...Koo SK
|
31756696 |
2019 |
| 19 |
Early Social Cognitive Ability in Preschoolers with Prader-Willi Syndrome and Autism Spectrum Disorder.
61
|
Dimitropoulos A...Russ SW
|
31388797 |
2019 |
| 20 |
Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.
61
|
Sato H...Mitsui T
|
31789783 |
2019 |
| 21 |
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
61
|
Kang E...Lee BH
|
31427715 |
2019 |
| 22 |
Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome.
61
|
Ge MM...Yang L
|
31270759 |
2019 |
| 23 |
Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study.
61
|
Corripio R...Gabau E
|
31271556 |
2019 |
| 24 |
Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome.
61
|
Donze SH...Hokken-Koelega ACS
|
30973645 |
2019 |
| 25 |
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.
61
|
Eggermann T...Elbracht M
|
31100449 |
2019 |
| 26 |
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.
61
|
Inoue T...Kagami M
|
30242100 |
2019 |
| 27 |
Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests.
61
|
Sato T...Hata K
|
30171908 |
2019 |
| 28 |
Single-Case Study of Appetite Control in Prader-Willi Syndrome, Over 12-Years by the Indian Extract Caralluma fimbriata.
61
|
Griggs J
|
31212875 |
2019 |
| 29 |
Compulsions in Prader-Willi syndrome: occurrence and severity as a function of genetic subtype.
61
|
Novell-Alsina R...Torrents-Rodas D
|
31233206 |
2019 |
| 30 |
Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected.
61
|
Tortora A...Vitale M
|
31079043 |
2019 |
| 31 |
Novel parent-of-origin-specific differentially methylated loci on chromosome 16.
61
|
Schulze KV...Stankiewicz P
|
30961659 |
2019 |
| 32 |
Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
61
|
Kagami M...Ogata T
|
30846001 |
2019 |
| 33 |
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
61
|
Mattioli F...Piton A
|
30476144 |
2019 |
| 34 |
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis.
61
|
Chan AP...Yeh J
|
31620490 |
2019 |
| 35 |
Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test.
61
|
Guzman-Alberto JC...Rangel-Villalobos H
|
29511852 |
2019 |
| 36 |
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.
61
|
Butler MG...Forster JL
|
31333129 |
2019 |
| 37 |
Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome.
61
|
Xia CL...Wei J
|
31803239 |
2019 |
| 38 |
Increased brain age in adults with Prader-Willi syndrome.
61
|
Azor AM...Manning KE
|
30658944 |
2019 |
| 39 |
Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome.
61
|
Costa RA...Guida LDC
|
31920975 |
2019 |
| 40 |
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.
61
|
Vado Y...Perez de Nanclares G
|
30587166 |
2018 |
| 41 |
Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male.
61
|
Eldar-Geva T...Eiges R
|
30003711 |
2018 |
| 42 |
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
61
|
Geoffron S...Giabicani E
|
29659920 |
2018 |
| 43 |
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome.
61
|
Leszinski GS...Wagner M
|
29655892 |
2018 |
| 44 |
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.
61
|
Yakoreva M...Ounap K
|
30181735 |
2018 |
| 45 |
Molecular and clinical studies in 8 patients with Temple syndrome.
61
|
Gillessen-Kaesbach G...Beygo J
|
29468661 |
2018 |
| 46 |
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.
61
|
Kawashima S...Kagami M
|
29878129 |
2018 |
| 47 |
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome.
61
|
Patti G...Di Iorgi N
|
29546330 |
2018 |
| 48 |
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.
61
|
Gold JA...Kimonis V
|
29681103 |
2018 |
| 49 |
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome.
61
|
Aman LCS...Holland AJ
|
29352661 |
2018 |
| 50 |
Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults.
61
|
Manzardo AM...Butler MG
|
28984907 |
2018 |
Developmental anomalies during embryogenesis 
