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Refinado por: Nome da Publicação: American Journal Of Medical Genetics. Part A remover assunto: Child, Preschool remover
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1
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
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Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

Blackburn, Patrick R. ; Chacon‐Camacho, Oscar F. ; Ortiz‐González, Xilma R. ; Reyes, Mariana ; Lopez‐Uriarte, Graciela A. ; Zarei, Shabnam ; Bhoj, Elizabeth J. ; Perez‐Solorzano, Sofia ; Vaubel, Rachael A. ; Murphree, Marine I. ; Nava, Jessica ; Cortes‐Gonzalez, Vianney ; Parisi, Joseph E. ; Villanueva‐Mendoza, Cristina ; Tirado‐Torres, Iris G. ; Li, Dong ; Klee, Eric W. ; Pichurin, Pavel N. ; Zenteno, Juan C.

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2710-2719 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways
Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways
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Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways

Takenouchi, Toshiki ; Sakamoto, Yoshiaki ; Miwa, Tomoru ; Torii, Chiharu ; Kosaki, Rika ; Kishi, Kazuo ; Takahashi, Takao ; Kosaki, Kenjiro

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2869-2872 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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3
Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation
Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation
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Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation

Kariminejad, Ariana ; Bozorgmehr, Bita ; Alizadeh, Houman ; Ghaderi-Sohi, Siavash ; Toksoy, Güven ; Uyguner, Zehra Oya ; Kayserili, Hülya

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1322-1327 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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4
Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review
Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review
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Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review

Lapunzina, Pablo ; Gairí, Alba ; Delicado, Alicia ; Mori, M. Angeles ; Torres, M. Luisa de ; Goma, Anton ; Navia, Marcelo ; Pajares, Isidora López

American journal of medical genetics, 2004-09, Vol.130A (1), p.45-51 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Adams–Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?
Adams–Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?
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Adams–Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?

Girard, Muriel ; Amiel, Jeanne ; Fabre, Monique ; Pariente, Danièle ; Lyonnet, Stanislas ; Jacquemin, Emmanuel

American journal of medical genetics. Part A, 2005-06, Vol.135A (2), p.186-189 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Craniofacial structure in Marfan syndrome: A cephalometric study
Craniofacial structure in Marfan syndrome: A cephalometric study
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Craniofacial structure in Marfan syndrome: A cephalometric study

De Coster, Peter ; Pauw, Guy De ; Martens, Luc ; De Paepe, Anne

American journal of medical genetics, 2004-12, Vol.131A (3), p.240-248 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Weismann-Netter syndrome and mental retardation: A new patient and review of the literature
Weismann-Netter syndrome and mental retardation: A new patient and review of the literature
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Weismann-Netter syndrome and mental retardation: A new patient and review of the literature

Peippo, Maarit ; Valanne, Leena ; Perhomaa, Marja ; Toivanen, Leena ; Ignatius, Jaakko

American journal of medical genetics. Part A, 2009-11, Vol.149A (11), p.2593-2601 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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8
Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway
Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway
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Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway

Grange, Dorothy K. ; Clericuzio, Carol L. ; Bayliss, Susan J. ; Berk, David R. ; Heideman, Richard L. ; Higginson, Julie K. ; Julian, Stephanie ; Lind, Anne

American journal of medical genetics. Part A, 2008-10, Vol.146A (20), p.2589-2597 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations
Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations
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Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations

Giuliano, Fabienne ; David, Albert ; Edery, Patrick ; Sigaudy, Sabine ; Bonneau, Dominique ; Cormier‐Daire, Valérie ; Philip, Nicole

American journal of medical genetics, 2004-04, Vol.126A (1), p.99-103 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?
Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?
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Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?

Al Kaissi, Ali ; Klaushofer, Klaus ; Safi, Hatem ; Chehida, Farid Ben ; Ghachem, Maher Ben ; Chaabounni, Myriam ; Hennekam, Raoul C.M.

American journal of medical genetics. Part A, 2007-02, Vol.143A (4), p.349-354 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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