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1.

CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.

Levy, Tess; Lerman, Bonnie; Halpern, Danielle; Frank, Yitzchak; Layton, Christina; Zweifach, Jessica; Siper, Paige M; Buxbaum, Joseph D; Kolevzon, Alexander.

Hum Mol Genet ; 31(15): 2582-2594, 2022 08 17.

Artículo en Inglés | MEDLINE | ID: mdl-35271727

2.

Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.

Levy, Tess; Foss-Feig, Jennifer H; Betancur, Catalina; Siper, Paige M; Trelles-Thorne, Maria Del Pilar; Halpern, Danielle; Frank, Yitzchak; Lozano, Reymundo; Layton, Christina; Britvan, Bari; Bernstein, Jonathan A; Buxbaum, Joseph D; Berry-Kravis, Elizabeth; Powell, Craig M; Srivastava, Siddharth; Sahin, Mustafa; Soorya, Latha; Thurm, Audrey; Kolevzon, Alexander.

Hum Mol Genet ; 31(4): 625-637, 2022 02 21.

Artículo en Inglés | MEDLINE | ID: mdl-34559195

3.

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Weisfeld-Adams, James D; Bender, H Allison; Miley-Åkerstedt, Anna; Frempong, Tamiesha; Schrager, Nina L; Patel, Keyur; Naidich, Thomas P; Stein, Victoria; Spat, Jessica; Towns, Stephanie; Wasserstein, Melissa P; Peter, Inga; Frank, Yitzchak; Diaz, George A.

Mol Genet Metab ; 110(3): 241-7, 2013 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-23954310

4.

Gait Abnormalities in Children with Phelan-McDermid Syndrome.

Frank, Yitzchak; Levy, Tess; Lozano, Reymundo; Friedman, Kate; Underwood, Slayton; Kostic, Ana; Walker, Hannah; Kolevzon, Alexander.

J Child Neurol ; 38(13-14): 665-671, 2023 12.

Artículo en Inglés | MEDLINE | ID: mdl-37849292

5.

The Neurological Manifestations of Phelan-McDermid Syndrome.

Frank, Yitzchak.

Pediatr Neurol ; 122: 59-64, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-34325981

6.

Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.

Trelles, M Pilar; Levy, Tess; Lerman, Bonnie; Siper, Paige; Lozano, Reymundo; Halpern, Danielle; Walker, Hannah; Zweifach, Jessica; Frank, Yitzchak; Foss-Feig, Jennifer; Kolevzon, Alexander; Buxbaum, Joseph.

Mol Autism ; 12(1): 61, 2021 09 29.

Artículo en Inglés | MEDLINE | ID: mdl-34588003

7.

FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Lozano, Reymundo; Gbekie, Catherine; Siper, Paige M; Srivastava, Shubhika; Saland, Jeffrey M; Sethuram, Swathi; Tang, Lara; Drapeau, Elodie; Frank, Yitzchak; Buxbaum, Joseph D; Kolevzon, Alexander.

J Neurodev Disord ; 13(1): 18, 2021 04 23.

Artículo en Inglés | MEDLINE | ID: mdl-33892622

8.

Prospective and detailed behavioral phenotyping in DDX3X syndrome.

Tang, Lara; Levy, Tess; Guillory, Sylvia; Halpern, Danielle; Zweifach, Jessica; Giserman-Kiss, Ivy; Foss-Feig, Jennifer H; Frank, Yitzchak; Lozano, Reymundo; Belani, Puneet; Layton, Christina; Lerman, Bonnie; Frowner, Emanuel; Breen, Michael S; De Rubeis, Silvia; Kostic, Ana; Kolevzon, Alexander; Buxbaum, Joseph D; Siper, Paige M; Grice, Dorothy E.

Mol Autism ; 12(1): 36, 2021 05 16.

Artículo en Inglés | MEDLINE | ID: mdl-33993884

9.

Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease.

Weisfeld-Adams, James D; Frank, Yitzchak; Havalad, Vinod; Hojsak, Joanne M; Posada, Roberto; Kaicker, Shipra M; Wistinghausen, Birte.

Childs Nerv Syst ; 25(2): 153-9, 2009 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-19023578

10.

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis, Silvia; Siper, Paige M; Durkin, Allison; Weissman, Jordana; Muratet, François; Halpern, Danielle; Trelles, Maria Del Pilar; Frank, Yitzchak; Lozano, Reymundo; Wang, A Ting; Holder, J Lloyd; Betancur, Catalina; Buxbaum, Joseph D; Kolevzon, Alexander.

Mol Autism ; 9: 31, 2018.

Artículo en Inglés | MEDLINE | ID: mdl-29719671

11.

Prospective investigation of FOXP1 syndrome.

Siper, Paige M; De Rubeis, Silvia; Trelles, Maria Del Pilar; Durkin, Allison; Di Marino, Daniele; Muratet, François; Frank, Yitzchak; Lozano, Reymundo; Eichler, Evan E; Kelly, Morgan; Beighley, Jennifer; Gerdts, Jennifer; Wallace, Arianne S; Mefford, Heather C; Bernier, Raphael A; Kolevzon, Alexander; Buxbaum, Joseph D.

Mol Autism ; 8: 57, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-29090079

12.

Brain imaging and electrophysiology biomarkers: is there a role in poverty and education outcome research?

Pavlakis, Alexandra E; Noble, Kimberly; Pavlakis, Steven G; Ali, Noorjahan; Frank, Yitzchak.

Pediatr Neurol ; 52(4): 383-8, 2015 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-25682481

13.

Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.

Kolevzon, Alexander; Bush, Lauren; Wang, A Ting; Halpern, Danielle; Frank, Yitzchak; Grodberg, David; Rapaport, Robert; Tavassoli, Teresa; Chaplin, William; Soorya, Latha; Buxbaum, Joseph D.

Mol Autism ; 6: 31, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-26034557

14.

Dopamine D4 receptor gene and attention deficit hyperactivity disorder.

Frank, Yitzchak; Pergolizzi, Robert G; Perilla, Mindy J.

Pediatr Neurol ; 31(5): 345-8, 2004 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-15519116

15.

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome.

Kolevzon, Alexander; Bush, Lauren; Wang, A Ting; Halpern, Danielle; Frank, Yitzchak; Grodberg, David; Rapaport, Robert; Tavassoli, Teresa; Chaplin, William; Soorya, Latha; Buxbaum, Joseph D.

Mol Autism ; 5(1): 54, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-25685306

16.

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Kolevzon, Alexander; Angarita, Benjamin; Bush, Lauren; Wang, A Ting; Frank, Yitzchak; Yang, Amy; Rapaport, Robert; Saland, Jeffrey; Srivastava, Shubhika; Farrell, Cristina; Edelmann, Lisa J; Buxbaum, Joseph D.

J Neurodev Disord ; 6(1): 39, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-25784960

17.

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

Soorya, Latha; Kolevzon, Alexander; Zweifach, Jessica; Lim, Teresa; Dobry, Yuriy; Schwartz, Lily; Frank, Yitzchak; Wang, A Ting; Cai, Guiqing; Parkhomenko, Elena; Halpern, Danielle; Grodberg, David; Angarita, Benjamin; Willner, Judith P; Yang, Amy; Canitano, Roberto; Chaplin, William; Betancur, Catalina; Buxbaum, Joseph D.

Mol Autism ; 4(1): 18, 2013 Jun 11.

Artículo en Inglés | MEDLINE | ID: mdl-23758760

18.

Alexia without agraphia in a child with acute disseminated encephalomyelitis.