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The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome
被引:8
作者
:
Zollino, M.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, I-00168 Rome, Italy
Univ Cattolica Sacro Cuore, Ist Genet Med, I-00168 Rome, Italy
Zollino, M.
[
1
]
Murdolo, M.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, I-00168 Rome, Italy
Univ Cattolica Sacro Cuore, Ist Genet Med, I-00168 Rome, Italy
Murdolo, M.
[
1
]
Neri, G.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, I-00168 Rome, Italy
Univ Cattolica Sacro Cuore, Ist Genet Med, I-00168 Rome, Italy
Neri, G.
[
1
]
机构
:
[1]
Univ Cattolica Sacro Cuore, Ist Genet Med, I-00168 Rome, Italy
来源
:
JOURNAL OF MEDICAL GENETICS
|
2008年
/ 45卷
/ 08期
关键词
:
D O I
:
10.1136/jmg.2008.058370
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:544 / 544
页数:1
相关论文
共 7 条
[1]
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome
[J].
Concolino, Daniela
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Concolino, Daniela
;
论文数:
引用数:
h-index:
机构:
Rossi, Elena
;
Strisciuglio, Pietro
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Strisciuglio, Pietro
;
Iembo, Maria Antonietta
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Iembo, Maria Antonietta
;
论文数:
引用数:
h-index:
机构:
Giorda, Roberto
;
Ciccone, Roberto
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Ciccone, Roberto
;
Tenconi, Romano
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Tenconi, Romano
;
Zuffardi, Orsetta
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Zuffardi, Orsetta
.
JOURNAL OF MEDICAL GENETICS,
2007,
44
(10)
:647
-650
[2]
COTE GB, 1981, ANN GENET-PARIS, V24, P231
[3]
Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes
[J].
Faravelli, Francesca
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Faravelli, Francesca
;
Murdolo, Marina
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Murdolo, Marina
;
Marangi, Giuseppe
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Marangi, Giuseppe
;
Bricarelli, Franca Dagna
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Bricarelli, Franca Dagna
;
Di Rocco, Maja
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Di Rocco, Maja
;
Zollino, Marcella
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Zollino, Marcella
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2007,
143A
(11)
:1169
-1173
[4]
DOES RING SYNDROME EXIST - AN ANALYSIS OF 207 CASE-REPORTS ON PATIENTS WITH A RING AUTOSOME
[J].
KOSZTOLANYI, G
论文数:
0
引用数:
0
h-index:
0
KOSZTOLANYI, G
.
HUMAN GENETICS,
1987,
75
(02)
:174
-179
[5]
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2):: A description of a second case
[J].
Rodríguez, L
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Rodríguez, L
;
Zollino, M
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Zollino, M
;
Climent, S
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Climent, S
;
Mansilla, E
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Mansilla, E
;
López-Grondona, F
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0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
López-Grondona, F
;
Martínez-Fernández, ML
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Martínez-Fernández, ML
;
Murdolo, M
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Murdolo, M
;
Martínez-Frías, ML
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Martínez-Frías, ML
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2005,
136A
(02)
:175
-178
[6]
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
[J].
Van Buggenhout, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Van Buggenhout, G
;
Melotte, C
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0
引用数:
0
h-index:
0
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Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Melotte, C
;
Dutta, B
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0
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h-index:
0
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Dutta, B
;
Froyen, G
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0
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Froyen, G
;
Van Hummelen, P
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0
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Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Van Hummelen, P
;
Marynen, P
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0
引用数:
0
h-index:
0
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Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Marynen, P
;
Matthijs, G
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0
引用数:
0
h-index:
0
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Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Matthijs, G
;
de Ravel, T
论文数:
0
引用数:
0
h-index:
0
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Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
de Ravel, T
;
Devriendt, K
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0
引用数:
0
h-index:
0
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Devriendt, K
;
Fryns, JP
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0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Fryns, JP
;
Vermeesch, JR
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Vermeesch, JR
.
JOURNAL OF MEDICAL GENETICS,
2004,
41
(09)
:691
-698
[7]
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
[J].
Zollino, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Zollino, M
;
Lecce, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Lecce, R
;
Fischetto, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Fischetto, R
;
Murdolo, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Murdolo, M
;
Faravelli, F
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Faravelli, F
;
Selicorni, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Selicorni, A
;
Buttè, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Buttè, C
;
Memo, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Memo, L
;
Capovilla, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Capovilla, G
;
Neri, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Neri, G
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2003,
72
(03)
:590
-597
←
1
→
共 7 条
[1]
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome
[J].
Concolino, Daniela
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Concolino, Daniela
;
论文数:
引用数:
h-index:
机构:
Rossi, Elena
;
Strisciuglio, Pietro
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Strisciuglio, Pietro
;
Iembo, Maria Antonietta
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Iembo, Maria Antonietta
;
论文数:
引用数:
h-index:
机构:
Giorda, Roberto
;
Ciccone, Roberto
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Ciccone, Roberto
;
Tenconi, Romano
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Tenconi, Romano
;
Zuffardi, Orsetta
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Pavia, Biol Gen & Genet Med, I-27100 Pavia, Italy
Zuffardi, Orsetta
.
JOURNAL OF MEDICAL GENETICS,
2007,
44
(10)
:647
-650
[2]
COTE GB, 1981, ANN GENET-PARIS, V24, P231
[3]
Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes
[J].
Faravelli, Francesca
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Faravelli, Francesca
;
Murdolo, Marina
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Murdolo, Marina
;
Marangi, Giuseppe
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Marangi, Giuseppe
;
Bricarelli, Franca Dagna
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Bricarelli, Franca Dagna
;
Di Rocco, Maja
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Di Rocco, Maja
;
Zollino, Marcella
论文数:
0
引用数:
0
h-index:
0
机构:
UCSC, Policlin A Gemelli, Fac Med & Chirurg, Ist Genet Med, I-00168 Rome, Italy
Zollino, Marcella
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2007,
143A
(11)
:1169
-1173
[4]
DOES RING SYNDROME EXIST - AN ANALYSIS OF 207 CASE-REPORTS ON PATIENTS WITH A RING AUTOSOME
[J].
KOSZTOLANYI, G
论文数:
0
引用数:
0
h-index:
0
KOSZTOLANYI, G
.
HUMAN GENETICS,
1987,
75
(02)
:174
-179
[5]
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2):: A description of a second case
[J].
Rodríguez, L
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Rodríguez, L
;
Zollino, M
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Zollino, M
;
Climent, S
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Climent, S
;
Mansilla, E
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Mansilla, E
;
López-Grondona, F
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
López-Grondona, F
;
Martínez-Fernández, ML
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Martínez-Fernández, ML
;
Murdolo, M
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Murdolo, M
;
Martínez-Frías, ML
论文数:
0
引用数:
0
h-index:
0
机构:
CIAC, Inst Salud Carlos III, ECEMC, Minist Sanidad & Consumo, E-28029 Madrid, Spain
Martínez-Frías, ML
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2005,
136A
(02)
:175
-178
[6]
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
[J].
Van Buggenhout, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Van Buggenhout, G
;
Melotte, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Melotte, C
;
Dutta, B
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Dutta, B
;
Froyen, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Froyen, G
;
Van Hummelen, P
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Van Hummelen, P
;
Marynen, P
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Marynen, P
;
Matthijs, G
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Matthijs, G
;
de Ravel, T
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
de Ravel, T
;
Devriendt, K
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Devriendt, K
;
Fryns, JP
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Fryns, JP
;
Vermeesch, JR
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp Gasthuisberg, Ctr Human Genet, B-3000 Louvain, Belgium
Vermeesch, JR
.
JOURNAL OF MEDICAL GENETICS,
2004,
41
(09)
:691
-698
[7]
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
[J].
Zollino, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Zollino, M
;
Lecce, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Lecce, R
;
Fischetto, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Fischetto, R
;
Murdolo, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Murdolo, M
;
Faravelli, F
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Faravelli, F
;
Selicorni, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Selicorni, A
;
Buttè, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Buttè, C
;
Memo, L
论文数:
0
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0
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Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Memo, L
;
Capovilla, G
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0
引用数:
0
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Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Capovilla, G
;
Neri, G
论文数:
0
引用数:
0
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机构:
Univ Cattolica Sacro Cuore, Ist Genet Med, Fac Med A Gemelli, I-00168 Rome, Italy
Neri, G
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2003,
72
(03)
:590
-597
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