Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.
about
A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.Familial Prader-Willi syndrome: case report and a literature review.The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome.Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromesClinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.Prader-Willi Syndrome: A spectrum of anatomical and clinical features.Structure and function of the human chromosome 15 imprinting center.
P2860
Q33676035-31071563-11A7-4576-9EA2-56B800418F1DQ34081493-B33FA1F9-EE31-41D2-9220-53C29559E7D3Q34190554-F33E729B-76D4-4749-A914-B43517144EFBQ35889365-BE68B6FF-0124-43E5-8314-DF1E514D03E7Q36846020-A8D5E481-68D3-48C9-BCB0-D59EF4264BE8Q38691540-1098F995-C7AC-486E-BCC3-73147FE46F9BQ41640473-853B0F20-0DED-4FC2-ABE5-3D713BB4A376
P2860
Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh-hant
name
Prader-Willi syndrome in a bro ...... mality at chromosome 15q11q13.
@en
Prader-Willi syndrome in a bro ...... mality at chromosome 15q11q13.
@nl
type
label
Prader-Willi syndrome in a bro ...... mality at chromosome 15q11q13.
@en
Prader-Willi syndrome in a bro ...... mality at chromosome 15q11q13.
@nl
prefLabel
Prader-Willi syndrome in a bro ...... mality at chromosome 15q11q13.
@en
Prader-Willi syndrome in a bro ...... mality at chromosome 15q11q13.
@nl
P2093
P356
P1476
Prader-Willi syndrome in a bro ...... mality at chromosome 15q11q13.
@en
P2093
Bröndum-Nielsen K
Cassidy SB
Hansteen IL
Orstavik KH
Steen-Johnsen J
Tangsrud SE
P304
P356
10.1002/AJMG.1320440431
P577
1992-11-01T00:00:00Z