共 7 条
[1]
Definition of 5q11.2 Microdeletion Syndrome Reveals Overlap with CHARGE Syndrome and 22q11 Deletion Syndrome Phenotypes
[J].
Blok, Charlotte Snijders
;
Corsten-Janssen, Nicole
;
FitzPatrick, David R.
;
Romano, Corrado
;
Fichera, Marco
;
Vitello, Girolamo Aurelio
;
Willemsen, Marjolein H.
;
Schoots, Jeroen
;
Pfundt, Rolph
;
van Ravenswaaij-Arts, Conny M. A.
;
Hoefsloot, Lies
;
Kleefstra, Tjitske
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2014, 164 (11)
:2843-2848

Blok, Charlotte Snijders
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Corsten-Janssen, Nicole
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

FitzPatrick, David R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, MRC IGMM, MRC Human Genet Unit, Edinburgh, Midlothian, Scotland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Romano, Corrado
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Assoc Oasi Maria Santissima, Turin, Italy Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Fichera, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Assoc Oasi Maria Santissima, Turin, Italy
Univ Catania, Catania, Italy Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Vitello, Girolamo Aurelio
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS Assoc Oasi Maria Santissima, Turin, Italy Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Willemsen, Marjolein H.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Schoots, Jeroen
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Pfundt, Rolph
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

van Ravenswaaij-Arts, Conny M. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Hoefsloot, Lies
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus MC, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Kleefstra, Tjitske
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
[2]
5q11.2 deletion in a patient with tracheal agenesis
[J].
de Jong, Elisabeth M.
;
Douben, Hannie
;
Eussen, Bert H.
;
Felix, Janine F.
;
Wessels, Marja W.
;
Poddighe, Pino J.
;
Nikkels, Peter G. J.
;
de Krijger, Ronald R.
;
Tibboel, Dick
;
de Klein, Annelies
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2010, 18 (11)
:1265-1268

de Jong, Elisabeth M.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands
Erasmus Univ, Med Ctr, Dept Pediat Surg, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

Douben, Hannie
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

Eussen, Bert H.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

Felix, Janine F.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Dept Pediat Surg, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

Wessels, Marja W.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

Poddighe, Pino J.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

Nikkels, Peter G. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Utrecht, Dept Pathol, Utrecht, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

de Krijger, Ronald R.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Dept Pathol, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

Tibboel, Dick
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Dept Pediat Surg, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands

de Klein, Annelies
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands Erasmus Univ, Med Ctr, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands
[3]
The murine G+C-rich promoter binding protein mGPBP is required for promoter-specific transcription
[J].
Hsu, LC
;
Liu, S
;
Abedinpour, F
;
Beech, RD
;
Lahti, JM
;
Kidd, VJ
;
Greenspan, JA
;
Yeung, CY
.
MOLECULAR AND CELLULAR BIOLOGY,
2003, 23 (23)
:8773-8785

Hsu, LC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Illinois, Dept Mol Genet, Chicago, IL 60607 USA

Liu, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Illinois, Dept Mol Genet, Chicago, IL 60607 USA

Abedinpour, F
论文数: 0 引用数: 0
h-index: 0
机构: Univ Illinois, Dept Mol Genet, Chicago, IL 60607 USA

Beech, RD
论文数: 0 引用数: 0
h-index: 0
机构: Univ Illinois, Dept Mol Genet, Chicago, IL 60607 USA

Lahti, JM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Illinois, Dept Mol Genet, Chicago, IL 60607 USA

Kidd, VJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Illinois, Dept Mol Genet, Chicago, IL 60607 USA

Greenspan, JA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Illinois, Dept Mol Genet, Chicago, IL 60607 USA

Yeung, CY
论文数: 0 引用数: 0
h-index: 0
机构: Univ Illinois, Dept Mol Genet, Chicago, IL 60607 USA
[4]
A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome
[J].
Prescott, K
;
Woodfine, K
;
Stubbs, P
;
Super, M
;
Kerr, B
;
Palmer, R
;
Carter, NP
;
Scambler, P
.
HUMAN GENETICS,
2005, 116 (1-2)
:83-90

Prescott, K
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Woodfine, K
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Stubbs, P
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Super, M
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Kerr, B
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Palmer, R
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Carter, NP
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Scambler, P
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England
[5]
SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1
[J].
Rebsamen, Manuele
;
Pochini, Lorena
;
Stasyk, Taras
;
de Araujo, Mariana E. G.
;
Galluccio, Michele
;
Kandasamy, Richard K.
;
Snijder, Berend
;
Fauster, Astrid
;
Rudashevskaya, Elena L.
;
Bruckner, Manuela
;
Scorzoni, Stefania
;
Filipek, Przemyslaw A.
;
Huber, Kilian V. M.
;
Bigenzahn, Johannes W.
;
Heinz, Leonhard X.
;
Kraft, Claudine
;
Bennett, Keiryn L.
;
Indiveri, Cesare
;
Huber, Lukas A.
;
Superti-Furga, Giulio
.
NATURE,
2015, 519 (7544)
:477-+

Rebsamen, Manuele
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

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de Araujo, Mariana E. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Div Cell Biol, Bioctr, A-6020 Innsbruck, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Galluccio, Michele
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calabria, Dept DiBEST Biol Ecol & Earth Sci, I-87036 Arcavacata Di Rende, Italy Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Kandasamy, Richard K.
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Snijder, Berend
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Fauster, Astrid
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Rudashevskaya, Elena L.
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Bruckner, Manuela
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Scorzoni, Stefania
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Filipek, Przemyslaw A.
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Innsbruck, Div Cell Biol, Bioctr, A-6020 Innsbruck, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Huber, Kilian V. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Bigenzahn, Johannes W.
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Heinz, Leonhard X.
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Kraft, Claudine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Vienna, Max F Perutz Labs, A-1030 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

Bennett, Keiryn L.
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria

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Superti-Furga, Giulio
论文数: 0 引用数: 0
h-index: 0
机构:
Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria Austrian Acad Sci, CeMM Res Ctr Mol Med, A-1090 Vienna, Austria
[6]
Novel microdeletion syndromes detected by chromosome microarrays
[J].
Slavotinek, Anne M.
.
HUMAN GENETICS,
2008, 124 (01)
:1-17

Slavotinek, Anne M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA
[7]
Microdeletion and Microduplication Syndromes
[J].
Weise, Anja
;
Mrasek, Kristin
;
Klein, Elisabeth
;
Mulatinho, Milene
;
Llerena, Juan C., Jr.
;
Hardekopf, David
;
Pekova, Sona
;
Bhatt, Samarth
;
Kosyakova, Nadezda
;
Liehr, Thomas
.
JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY,
2012, 60 (05)
:346-358

论文数: 引用数:
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Mrasek, Kristin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany

Klein, Elisabeth
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany

Mulatinho, Milene
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Fernandes Figueira Fiocruz, Dept Genet, Rio De Janeiro, Brazil Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany

Llerena, Juan C., Jr.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Fernandes Figueira Fiocruz, Dept Genet, Rio De Janeiro, Brazil Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany

Hardekopf, David
论文数: 0 引用数: 0
h-index: 0
机构:
Chambon Lab Mol Diagnost, Prague, Czech Republic Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany

Pekova, Sona
论文数: 0 引用数: 0
h-index: 0
机构:
Chambon Lab Mol Diagnost, Prague, Czech Republic Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany

Bhatt, Samarth
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany

Kosyakova, Nadezda
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany Univ Jena, Jena Univ Hosp, Inst Human Genet, D-07743 Jena, Germany

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