PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATION [0.03%]
罕见的RAF1 P.S427G突变引起的家族性诺顿综合征的表型影响及恶性风险
M Pelc,E Ciara,A Jezela-Stanek et al.
M Pelc et al.
Mutations leading to dysregulation of the Ras/MAPK signal transduction cascade are a common cause of Noonan syndrome (NS) and play a key role in the pathogenesis of many human malignancies. To date, about 24 various RAF1 germline mutations ...
ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION [0.03%]
罗伯茨综合症的临床和细胞遗传学研究(8个埃及患者)及分子基因型/表型相关性分析(4个患者)
S Ismail,M Essawi,N Sedky et al.
S Ismail et al.
The Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by mutation in ESCO2 gene. Among over 150 reported international cases, 16 cases are Egyptian including the presently reported patients. The current study reports 8 ne...
PARTIAL TRISOMY 5p12-q 11.2 RESULTING FROM A MARKER CHROMOSOME: A NEW CASE REPORT WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER [0.03%]
染色体标记导致的5号染色体部分三体性（5p12-q11.2）一例报告及注意缺陷多动障碍患者的临床分析
H B Erdem,I Sahin,S Tasdemir et al.
H B Erdem et al.
Partial trisomy of chromosome 5 was first described by Lejeune et al. in 1964 on the short arm (12). The vast majority of the partial trisomy 5 cases include 5p duplications; however we reported a small supernumerary marker chromosome. Gene...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(3):295-303. DOI: 2016
THE RELATIONSHIP BETWEEN CONGENITAL HEART DEFECTS AND e-NOS GENE IN DOWN SYNDROME [0.03%]
唐氏综合征先天性心脏病与e-NOS基因的关系
M Okur,R Eroz,M S Bektas et al.
M Okur et al.
The aim of the study was to compare the effects of three eNOS gene polymorphisms associated with congenital heart defects, between Down syndrome patients with and without cardiac anomalies. Transthoracic echocardiographic examinations and e...
Pathogenic Compound Heterozygous Mutations in a Mexican Mestizo Patient with Niemann-Pick Disease Type B [0.03%]
一名西班牙混血患者的罕见尼曼皮克病B型的致病复合杂合突变分析
J Salvador Velarde-Félix,J F Osuna-Ramos,M G Sánchez-Leyva et al.
J Salvador Velarde-Félix et al.
Niemann-Pick disease (NPD) type B is a lysosomal storage disorder caused by a deficiency of acid sphingomyelinase (ASM). We report the clinical follow-up of a 16-year-old Mexican mestizo woman with a NPD type B phenotype who presented hepat...
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):211-7. DOI: 2016
Z S Karalok,B D Taskin,U Aydogmus et al.
Z S Karalok et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):279-82. DOI: 2016
Distal trisomy 10q due to maternal insertional translocation (15;10): A case report and review of literature [0.03%]
由于母体插入性易位（15;10）导致的10号染色体远端三体综合征：病例报告及文献复习
Ö Türedi,A Vícdan,N Yürür Kutlay
Ö Türedi
A Boy with Short Stature, Unusual Findings and Low Percentage of 45,x(4%) / 46,xy(96%) Mosaicism [0.03%]
身材矮小，少见体征的45,X（4%）/46,XY（96%）嵌合体男性患儿1例报告
M Dogan,R Eroz,S Bolu et al.
M Dogan et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):269-72. DOI: 2016
S Ozemri Sag,A Topak,O Gorukmez et al.
S Ozemri Sag et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):263-7. DOI: 2016
Basal Cell Nevus (Gorlin) Syndrome with a Novel Heterozygous Deletion Frameshift Mutation (C.959delc, P.val322 Phe Fsx2) in the Ptch1 Gene Associated with Epiretinal Membrane, Odontogenic Keratocysts and without Skin Lesions and Falx Cerebri Calcification [0.03%]
PTCH1基因异质性删除移框突变(C.959delc，P.val322 Phe fsX2)所致基底细胞痣(Gorlin)综合征并发视网膜前膜、成釉细胞瘤且无皮肤病变和大脑镰钙化症
A Akaltun,R Eroz,M Dogan et al.
A Akaltun et al.
Case Reports
Genetic counseling (Geneva, Switzerland). 2016;27(2):259-62. DOI: 2016