共 7 条
[1]
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
[J].
Abdel-Salam, Ghada M. H.
;
Schaffer, Ashleigh E.
;
Zaki, Maha S.
;
Dixon-Salazar, Tracy
;
Mostafa, Inas S.
;
Afifi, Hanan H.
;
Gleeson, Joseph G.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2012, 158A (11)
:2788-2796

Abdel-Salam, Ghada M. H.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Schaffer, Ashleigh E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci, La Jolla, CA 92093 USA Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Zaki, Maha S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Dixon-Salazar, Tracy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci, La Jolla, CA 92093 USA Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Mostafa, Inas S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Orodental Genet Dept, Human Genet & Genome Res Div, Cairo 12311, Egypt Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Afifi, Hanan H.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt

Gleeson, Joseph G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci, La Jolla, CA 92093 USA Natl Res Ctr, Human Genet & Genome Res Div, Dept Clin Genet, Cairo 12311, Egypt
[2]
Successful Treatment of Type 1 Diabetes and Seizures With Combined Ketogenic Diet and Insulin
[J].
Castaneda, Roxana L. Aguirre
;
Mack, Kenneth J.
;
Lteif, Aida
.
PEDIATRICS,
2012, 129 (02)
:E511-E514

Castaneda, Roxana L. Aguirre
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Pediat Endocrinol & Metab, Coll Med, Rochester, MN 55905 USA Mayo Clin, Div Pediat Endocrinol & Metab, Coll Med, Rochester, MN 55905 USA

Mack, Kenneth J.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Child & Adolescent Neurol, Coll Med, Rochester, MN 55905 USA Mayo Clin, Div Pediat Endocrinol & Metab, Coll Med, Rochester, MN 55905 USA

Lteif, Aida
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Pediat Endocrinol & Metab, Coll Med, Rochester, MN 55905 USA Mayo Clin, Div Pediat Endocrinol & Metab, Coll Med, Rochester, MN 55905 USA
[3]
Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors
[J].
Poulton, Cathryn J.
;
Schot, Rachel
;
Kia, Sima Kheradmand
;
Jones, Marta
;
Verheijen, Frans W.
;
Venselaar, Hanka
;
de Wit, Marie-Claire Y.
;
de Graaff, Esther
;
Bertoli-Avella, Aida M.
;
Mancini, Grazia M. S.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2011, 89 (02)
:265-276

Poulton, Cathryn J.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

Schot, Rachel
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

Kia, Sima Kheradmand
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

Jones, Marta
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Dept Pathol, Neuropathol Unit, La Plata, Buenos Aires, Argentina Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

Verheijen, Frans W.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

Venselaar, Hanka
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, CMBI Nijmegen, NL-6500 HB Nijmegen, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

de Wit, Marie-Claire Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Paediat Neurol, Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

de Graaff, Esther
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Fac Sci, Dept Cell Biol, NL-3508 TC Utrecht, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

Bertoli-Avella, Aida M.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

Mancini, Grazia M. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands
[4]
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
[J].
Richards, Sue
;
Aziz, Nazneen
;
Bale, Sherri
;
Bick, David
;
Das, Soma
;
Gastier-Foster, Julie
;
Grody, Wayne W.
;
Hegde, Madhuri
;
Lyon, Elaine
;
Spector, Elaine
;
Voelkerding, Karl
;
Rehm, Heidi L.
.
GENETICS IN MEDICINE,
2015, 17 (05)
:405-424

Richards, Sue
论文数: 0 引用数: 0
h-index: 0
机构:
Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Aziz, Nazneen
论文数: 0 引用数: 0
h-index: 0
机构:
Coll Amer Pathologists, Chicago, IL USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bale, Sherri
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Bick, David
论文数: 0 引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Genet Sect, Milwaukee, WI 53226 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Das, Soma
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Gastier-Foster, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Cytogenet Mol Genet Lab, Columbus, OH USA
Ohio State Univ, Coll Med, Dept Pathol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Grody, Wayne W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Hegde, Madhuri
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Emory Genet Lab, Dept Human Genet, Atlanta, GA 30322 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Lyon, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Spector, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Anschutz Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Voelkerding, Karl
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA

Rehm, Heidi L.
论文数: 0 引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Partners Lab Mol Med, Boston, MA 02115 USA
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USA Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
[5]
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder
[J].
Shalev, Stavit A.
;
Tenenbaum-Rakover, Yardena
;
Horovitz, Yoseph
;
Paz, Veronica P.
;
Ye, Honggang
;
Carmody, David
;
Highland, Heather M.
;
Boerwinkle, Eric
;
Hanis, Craig L.
;
Muzny, Donna M.
;
Gibbs, Richard A.
;
Bell, Graeme I.
;
Philipson, Louis H.
;
Greeley, Siri Atma W.
.
PEDIATRIC DIABETES,
2014, 15 (03)
:252-256

Shalev, Stavit A.
论文数: 0 引用数: 0
h-index: 0
机构:
Emek Med Ctr, Genet Inst, Afula, Israel
Technion Israel Inst Technol, Rapapport Fac Med, Haifa, Israel Emek Med Ctr, Genet Inst, Afula, Israel

Tenenbaum-Rakover, Yardena
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rapapport Fac Med, Haifa, Israel
Emek Med Ctr, Pediat Endocrinol Unit, Afula, Israel Emek Med Ctr, Genet Inst, Afula, Israel

Horovitz, Yoseph
论文数: 0 引用数: 0
h-index: 0
机构:
Technion Israel Inst Technol, Rapapport Fac Med, Haifa, Israel
Emek Med Ctr, Dept Pediat, Afula, Israel Emek Med Ctr, Genet Inst, Afula, Israel

Paz, Veronica P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Sect Adult & Pediat Endocrinol Diabet & Metab, Chicago, IL 60637 USA Emek Med Ctr, Genet Inst, Afula, Israel

Ye, Honggang
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Sect Adult & Pediat Endocrinol Diabet & Metab, Chicago, IL 60637 USA Emek Med Ctr, Genet Inst, Afula, Israel

Carmody, David
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Sect Adult & Pediat Endocrinol Diabet & Metab, Chicago, IL 60637 USA Emek Med Ctr, Genet Inst, Afula, Israel

Highland, Heather M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77225 USA Emek Med Ctr, Genet Inst, Afula, Israel

Boerwinkle, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77225 USA
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Emek Med Ctr, Genet Inst, Afula, Israel

Hanis, Craig L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77225 USA Emek Med Ctr, Genet Inst, Afula, Israel

Muzny, Donna M.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Emek Med Ctr, Genet Inst, Afula, Israel

Gibbs, Richard A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Emek Med Ctr, Genet Inst, Afula, Israel

Bell, Graeme I.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Sect Adult & Pediat Endocrinol Diabet & Metab, Chicago, IL 60637 USA Emek Med Ctr, Genet Inst, Afula, Israel

Philipson, Louis H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Sect Adult & Pediat Endocrinol Diabet & Metab, Chicago, IL 60637 USA Emek Med Ctr, Genet Inst, Afula, Israel

Greeley, Siri Atma W.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Chicago, Sect Adult & Pediat Endocrinol Diabet & Metab, Chicago, IL 60637 USA Emek Med Ctr, Genet Inst, Afula, Israel
[6]
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature
[J].
Valenzuela, Irene
;
Boronat, Susana
;
Martinez-Saez, Elena
;
Clemente, Maria
;
Sanchez-Montaez, Angel
;
Munell, Francina
;
Carrascosa, Antonio
;
Macaya, Alfons
.
EUROPEAN JOURNAL OF MEDICAL GENETICS,
2017, 60 (10)
:517-520

Valenzuela, Irene
论文数: 0 引用数: 0
h-index: 0
机构:
Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129, Barcelona 08035, Spain
Vall dHebron Univ Hosp, Rare Dis Unit, Passeig Vall dHebron 119-129, Barcelona 08035, Spain Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129, Barcelona 08035, Spain

Boronat, Susana
论文数: 0 引用数: 0
h-index: 0
机构:
Vall dHebron Univ Hosp, Paediat Neurol Res Grp, Passeig Vall dHebron 119-129, Barcelona 08035, Spain Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129, Barcelona 08035, Spain

Martinez-Saez, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Vall dHebron Univ Hosp, Pathol Dept, Passeig Vall dHebron 119-129, Barcelona 08035, Spain Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129, Barcelona 08035, Spain

Clemente, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Vall dHebron Univ Hosp, Paediat Endocrinol Serv, Passeig Vall dHebron 119-129, Barcelona 08035, Spain Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129, Barcelona 08035, Spain

Sanchez-Montaez, Angel
论文数: 0 引用数: 0
h-index: 0
机构:
Vall dHebron Univ Hosp, Paediat Radiol Serv, Passeig Vall dHebron 119-129, Barcelona 08035, Spain Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129, Barcelona 08035, Spain

Munell, Francina
论文数: 0 引用数: 0
h-index: 0
机构:
Vall dHebron Univ Hosp, Paediat Neurol Res Grp, Passeig Vall dHebron 119-129, Barcelona 08035, Spain Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129, Barcelona 08035, Spain

Carrascosa, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Vall dHebron Univ Hosp, Paediat Endocrinol Serv, Passeig Vall dHebron 119-129, Barcelona 08035, Spain
Autonomous Univ Barcelona, Barcelona, Spain Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129, Barcelona 08035, Spain

Macaya, Alfons
论文数: 0 引用数: 0
h-index: 0
机构:
Vall dHebron Univ Hosp, Paediat Neurol Res Grp, Passeig Vall dHebron 119-129, Barcelona 08035, Spain
Autonomous Univ Barcelona, Barcelona, Spain Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Passeig Vall dHebron 119-129, Barcelona 08035, Spain
[7]
ISPAD Clinical Practice Consensus Guidelines 2018: Diabetic ketoacidosis and the hyperglycemic hyperosmolar state
[J].
Wolfsdorf, Joseph I.
;
Glaser, Nicole
;
Agus, Michael
;
Fritsch, Maria
;
Hanas, Ragnar
;
Rewers, Arleta
;
Sperling, Mark A.
;
Codner, Ethel
.
PEDIATRIC DIABETES,
2018, 19
:155-177

Wolfsdorf, Joseph I.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Div Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA Boston Childrens Hosp, Div Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA

Glaser, Nicole
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Davis, Sch Med, Dept Pediat, Endocrinol Sect, Sacramento, CA 95817 USA Boston Childrens Hosp, Div Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA

Agus, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Div Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA
Boston Childrens Hosp, Div Crit Care Med, Boston, MA USA Boston Childrens Hosp, Div Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA

Fritsch, Maria
论文数: 0 引用数: 0
h-index: 0
机构:
Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria Boston Childrens Hosp, Div Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA

Hanas, Ragnar
论文数: 0 引用数: 0
h-index: 0
机构:
Gothenburg Univ, Uddevalla & Sahlgrenska Acad, NU Hosp Grp, Dept Pediat, Gothenburg, Sweden Boston Childrens Hosp, Div Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA

Rewers, Arleta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Colorado, Sch Med, Dept Pediat, Aurora, CO USA Boston Childrens Hosp, Div Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA

Sperling, Mark A.
论文数: 0 引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Dept Pediat, Div Endocrinol Diabet & Metab, New York, NY 10029 USA Boston Childrens Hosp, Div Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA

论文数: 引用数:
h-index:
机构: