Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

被引：0

作者：

Vanbelleghem, Eva ^{[1
,2
]}

Van Damme, Tim ^{[1
]}

Beyens, Aude ^{[1
,2
]}

Symoens, Sofie ^{[1
,2
]}

Claes, Kathleen ^{[1
,2
]}

De Backer, Julie ^{[1
,3
]}

Meerschaut, Ilse ^{[4
]}

Vanommeslaeghe, Floris ^{[5
]}

Delanghe, Sigurd E. ^{[5
]}

van den Ende, Jenneke ^{[6
]}

Beyltjens, Tessi ^{[6
]}

Scimone, Eleanor R. ^{[7
]}

Lindsay, Mark E. ^{[8
,9
]}

Schimmenti, Lisa A. ^{[10
]}

Hinze, Alicia M. ^{[11
]}

Dunn, Emily ^{[12
]}

Gomez-Ospina, Natalia ^{[12
]}

Vandernoot, Isabelle ^{[13
]}

Delguste, Thomas ^{[13
]}

Coppens, Sandra ^{[13
]}

Cormier-Daire, Valerie ^{[14
]}

Tartaglia, Marco ^{[15
]}

Garavelli, Livia ^{[16
]}

Shieh, Joseph ^{[17
]}

Demir, Senol ^{[18
]}

Arslan Ates, Esra ^{[19
]}

Zenker, Martin ^{[20
]}

Rohanizadegan, Mersedeh ^{[21
]}

Rivera-Cruz, Greysha ^{[22
]}

Douzgou, Sofia ^{[23
]}

Smith, Justin

Simkins, Jessica

Clark, Don

Karatsinides, Stephanie

Taylor, Sandy

White, Ines

Schultz, Patti

Wears, Kate

Holder, Levi

Young, Kathy

Lin, Angela E. ^{[7
]}

Callewaert, Bert ^{[1
,2
]}

机构：

[1] Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium

[2] Univ Ghent, Dept Biomol Med, Ghent, Belgium

[3] Ghent Univ Hosp, Dept Cardiol, Ghent, Belgium

[4] Univ Hosp Brussels, Dept Pediat Cardiol, Brussels, Belgium

[5] Ghent Univ Hosp, Dept Nephrol, Ghent, Belgium

[6] Univ Antwerp, Antwerp Univ Hosp, Dept Med Genet, Antwerp, Belgium

[7] MassGen Children, Dept Pediat, Genet Unit, Boston, MA USA

[8] Massachusetts Gen Hosp, Dept Med, Cardiovasc Genet Program, Cardiol Div, Boston, MA USA

[9] Massachusetts Gen Hosp, Dept Pediat, Pediat Cardiol Div, Boston, MA USA

[10] Mayo Clin, Dept Clin Genom, Rochester, MN USA

[11] Mayo Clin, Div Rheumatol, Rochester, MN USA

[12] Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA USA

[13] Univ Libre Bruxelles, Hop Univ Bruxelles, ULB Ctr Human Genet, Brussels, Belgium

[14] Paris Cite Univ, Necker Enfants Malad Hosp, Imagine Inst, Ctr Reference Constitut Bone Dis MOC, Paris, France

[15] Bambino Gesu Pediat Hosp, Mol Genet & Funct Genom, IRCCS, Rome, Italy

[16] Azienda USL IRCCS Reggio Emilia, Med Genet Unit, Reggio Emilia, Italy

[17] Univ Calif San Francisco, Inst Human Genet, Dept Pediat, San Francisco, CA USA

[18] Marmara Univ, Sch Med, Dept Med Genet, Istanbul, Turkiye

[19] Istanbul Univ Cerrahpasa, Fac Med, Dept Med Genet, Istanbul, Turkiye

[20] Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany

[21] Univ Penn, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA USA

[22] Stanford Univ, Div Reprod Endocrinol & Infertil, Sch Med, Stanford, CA USA

[23] Haukeland Hosp, Dept Med Genet, Bergen, Norway

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年

关键词：

D O I：

10.1038/s41431-024-01690-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页数：1

共 37 条

[1] Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
Vanbelleghem, Eva
Van Damme, Tim
Beyens, Aude
Symoens, Sofie
Claes, Kathleen
De Backer, Julie
Meerschaut, Ilse
Vanommeslaeghe, Floris
Delanghe, Sigurd E.
van den Ende, Jenneke
Beyltjens, Tessi
Scimone, Eleanor R.
Lindsay, Mark E.
Schimmenti, Lisa A.
Hinze, Alicia M.
Dunn, Emily
Gomez-Ospina, Natalia
Vandernoot, Isabelle
Delguste, Thomas
Coppens, Sandra
Cormier-Daire, Valerie
Tartaglia, Marco
Garavelli, Livia
Shieh, Joseph
Demir, Senol
Ates, Esra Arslan
Zenker, Martin
Rohanizadegan, Mersedeh
Rivera-Cruz, Greysha
Douzgou, Sofia
Smith, Justin
Simkins, Jessica
Clark, Don
Karatsinides, Stephanie
Taylor, Sandy
White, Ines
Schultz, Patti
Wears, Kate
Holder, Levi
Young, Kathy
Lin, Angela E.
Callewaert, Bert
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (09) : 1086 - 1094
[2] A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations (vol 31, pg 592, 2010)
Gentile, J. K.
Tan, W. H.
Horowizt, L. T.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, 2011, 32 (03): : 267 - 267
[3] Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome
Zollino, M
Di Stefano, C
Zampino, G
Mastroiacovo, P
Wright, TJ
Sorge, G
Selicorni, A
Tenconi, R
Zappalà, A
Battaglia, A
Di Rocco, M
Palka, G
Pallotta, R
Altherr, MR
Neri, G
AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 94 (03): : 254 - 261
[4] Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management
Cornish, K
Bramble, D
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2002, 44 (07): : 494 - 497
[5] Genotype-phenotype correlations for catacts in neurofibramatosis 2 (vol 40, pg 758, 2003)
Baser, ME
JOURNAL OF MEDICAL GENETICS, 2004, 41 (03): : 240 - 240
[6] The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis (vol 17, pg 189, 2019)
Weiss, Karin
Lazar, Hayley P.
Kurolap, Alina
Martinez, Ariel F.
Paperna, Tamar
Cohen, Lior
Smeland, Marie F.
Whalen, Sandra
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Roberts, John D.
Petrovich, Robert M.
Vergano, Samantha A. Schrier
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DeChene, Elizabeth
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Colin, Estelle
Ziegler, Alban
Rumple, Melissa
Jain, Mahim
Monteil, Danielle
Roeder, Elizabeth R.
Nugent, Kimberly
van Haeringen, Arie
Gambello, Michael
Santani, Avni
Medne, Livija
Krock, Bryan
Skraban, Cara M.
Zackai, Elaine H.
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Smol, Thomas
Ghoumid, Jamal
Parker, Michael J.
Wright, Michael
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Metcalfe, Kay
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Gelb, Bruce D.
Feldman, Hagit Baris
Campeau, Philippe M.
Muenke, Maximilian
Wade, Paul A.
Lachlan, Katherine
GENETICS IN MEDICINE, 2020, 22 (03) : 669 - 669
[7] A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome (vol 75, pg 1, 2020)
Gertler, Tracy S.
Calhoun, Jeffrey
Laux, Linda
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2020, 80 : 281 - 281
[8] The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations (vol 18, pg 1143, 2016)
Chen, Chun-An
Bosch, Danielle G. M.
Cho, Megan T.
Rosenfeld, Jill A.
Shinawi, Marwan
Lewis, Richard Alan
Mann, John
Jayakar, Parul
Payne, Katelyn
Walsh, Laurence
Moss, Timothy
Schreiber, Allison
Schoonveld, Cheri
Monaghan, Kristin G.
Elmslie, Frances
Douglas, Ganka
Boonstra, F. Nienke
Millan, Francisca
Cremers, Frans P. M.
McKnight, Dianalee
Richard, Gabriele
Juusola, Jane
Kendall, Fran
Ramsey, Keri
Anyane-Yeboa, Kwame
Malkin, Elfrida
Chung, Wendy K.
Niyazov, Dmitriy
Pascual, Juan M.
Walkiewicz, Magdalena
Veluchamy, Vivekanand
Li, Chumei
Hisama, Fuki M.
de Vries, Bert B. A.
Schaaf, Christian
GENETICS IN MEDICINE, 2017, 19 (08) : 962 - 962
[9] PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Reijnders, Margot R. F.
Janowski, Robert
Alvi, Mohsan
Self, Jay E.
van Essen, Ton J.
Vreeburg, Maaike
Rouhl, Rob P. W.
Stevens, Servi J. C.
Stegmann, Alexander P. A.
Schieving, Jolanda
Pfundt, Rolph
van Dijk, Katinke
Smeets, Eric
Stumpel, Connie T. R. M.
Bok, Levinus A.
Cobben, Jan Maarten
Engelen, Marc
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Whiteford, Margo
Chandler, Kate E.
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Cooper, Nicola S.
Tan, Ene-Choo
Foo, Roger
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Carvalho, Karen S.
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Lev, Dorit L.
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Siu, Victoria Mok
Selber, Paulo
Leventer, Richard J.
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Niessing, Dierk
JOURNAL OF MEDICAL GENETICS, 2018, 55 (02) : 104 - 113
[10] Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations
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