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Refinado por: Nome da Publicação: American Journal Of Medical Genetics. Part A remover assunto: Medical Sciences remover
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1
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
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Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

Thierry, Gaelle ; Bénéteau, Claire ; Pichon, Olivier ; Flori, Elisabeth ; Isidor, Bertrand ; Popelard, Françoise ; Delrue, Marie-Ange ; Duboscq-Bidot, Laetitia ; Thuresson, Ann-Charlotte ; van Bon, Bregje W.M. ; Cailley, Dorothée ; Rooryck, Caroline ; Paubel, Agathe ; Metay, Corinne ; Dusser, Anne ; Pasquier, Laurent ; Béri, Mylène ; Bonnet, Céline ; Jaillard, Sylvie ; Dubourg, Christèle ; Tou, Bassim ; Quéré, Marie-Pierre ; Soussi-Zander, Cecilia ; Toutain, Annick ; Lacombe, Didier ; Arveiler, Benoit ; de Vries, Bert B.A. ; Jonveaux, Philippe ; David, Albert ; Le Caignec, Cédric

American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1633-1640 [Periódico revisado por pares]

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2
Duplication 16p11.2 in a child with infantile seizure disorder
Duplication 16p11.2 in a child with infantile seizure disorder
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Duplication 16p11.2 in a child with infantile seizure disorder

Bedoyan, Jirair K. ; Kumar, Ravinesh A. ; Sudi, Jyotsna ; Silverstein, Faye ; Ackley, Todd ; Iyer, Ramaswamy K. ; Christian, Susan L. ; Martin, Donna M.

American journal of medical genetics. Part A, 2010-06, Vol.152A (6), p.1567-1574 [Periódico revisado por pares]

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3
A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies
A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies
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A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies

Carter, Melissa T. ; Geraghty, Michael T. ; De La Cruz, Laura ; Reichard, R. Ross ; Boccuto, Luigi ; Schwartz, Charles E. ; Clericuzio, Carol L.

American journal of medical genetics. Part A, 2011-02, Vol.155A (2), p.301-306 [Periódico revisado por pares]

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4
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome
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Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome

Fan, Zheng ; Greenwood, Robert ; Fisher, Amy ; Pendyal, Surekha ; Powell, Cynthia M.

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1581-1584 [Periódico revisado por pares]

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5
Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature
Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature
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Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature

Motobayashi, Mitsuo ; Nishimura‐Tadaki, Akira ; Inaba, Yuji ; Kosho, Tomoki ; Miyatake, Satoko ; Niimi, Taemi ; Nishimura, Takafumi ; Wakui, Keiko ; Fukushima, Yoshimitsu ; Matsumoto, Naomichi ; Koike, Kenichi

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.861-868 [Periódico revisado por pares]

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6
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome
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Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome

Mégarbané, André ; Chouery, Eliane ; Mignon‐Ravix, Cécile ; El Sabbagh, Sandra ; Corbani, Sandra ; Ghoch, Joelle Abou ; Jalkh, Nadine ; Mehawej, Cybel ; Lévy, Nicolas ; Villard, Laurent

American journal of medical genetics. Part A, 2011-05, Vol.155 (5), p.1147-1151 [Periódico revisado por pares]

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7
20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder
20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder
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20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder

Williams, P.G. ; Wetherbee, J.J. ; Rosenfeld, J.A. ; Hersh, J.H.

American journal of medical genetics. Part A, 2011-01, Vol.155 (1), p.186-191 [Periódico revisado por pares]

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8
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder
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Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder

García-Nonell, Catalina ; Ratera, Eugenia Rigau ; Harris, Susan ; Hessl, David ; Ono, Michele Y. ; Tartaglia, Nicole ; Marvin, Emily ; Tassone, Flora ; Hagerman, Randi J.

American journal of medical genetics. Part A, 2008-08, Vol.146A (15), p.1911-1916 [Periódico revisado por pares]

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9
First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies
First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies
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First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies

Northup, Jill K. ; Wain, Kären E. ; Hawkins, Judy C. ; Matalon, Reuben ; Velagaleti, Gopalrao V.N.

American journal of medical genetics. Part A, 2008-10, Vol.146A (19), p.2578-2582 [Periódico revisado por pares]

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10
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
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Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

Kuechler, Alma ; Buysse, Karen ; Clayton-Smith, Jill ; Le Caignec, Cédric ; David, Albert ; Engels, Hartmut ; Kohlhase, Jürgen ; Mari, Francesca ; Mortier, Geert ; Renieri, Alessandra ; Wieczorek, Dagmar

American journal of medical genetics. Part A, 2011-08, Vol.155A (8), p.1857-1864 [Periódico revisado por pares]

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