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Items: 1 to 20 of 146

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New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.

Brooks SS, Wisniewski K, Brown WT.

Am J Med Genet. 1994 Jul 15;51(4):586-90.

PMID:
7943044
5.

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.

Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F.

Epilepsia. 2006 May;47(5):830-8.

6.

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.

Wang Y, Martinez JE, Wilson GL, He XY, Tuck-Muller CM, Maertens P, Wertelecki W, Chen TJ.

Am J Med Genet A. 2006 Jun 15;140(12):1274-9.

PMID:
16691578
7.

Magnetic resonance imaging in the malformative syndromes with mental retardation.

Gabrielli O, Salvolini U, Coppa GV, Catassi C, Rossi R, Manca A, Lanza R, Giorgi PL.

Pediatr Radiol. 1990;21(1):16-9.

PMID:
2287531
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Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome.

Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH Jr, Bonanni P, Truwit CL.

Neurology. 1997 Oct;49(4):1042-7. Review.

PMID:
9339687
10.

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.

Bonneau D, Toutain A, Laquerrière A, Marret S, Saugier-Veber P, Barthez MA, Radi S, Biran-Mucignat V, Rodriguez D, Gélot A.

Ann Neurol. 2002 Mar;51(3):340-9.

PMID:
11891829
11.

The FG syndrome: report of a large Italian series.

Battaglia A, Chines C, Carey JC.

Am J Med Genet A. 2006 Oct 1;140(19):2075-9.

PMID:
16691600
12.

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome.

Tabolacci E, Zollino M, Lecce R, Sangiorgi E, Gurrieri F, Leuzzi V, Opitz JM, Neri G.

Clin Dysmorphol. 2005 Jul;14(3):127-32.

PMID:
15930901
13.

Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.

Schorderet DF, Addor MC, Maeder P, Roulet E, Junier L.

Genet Couns. 2002;13(4):441-7.

PMID:
12558115
14.

Perinatal imaging findings of inherited Sotos syndrome.

Chen CP, Lin SP, Chang TY, Chiu NC, Shih SL, Lin CJ, Wang W, Hsu HC.

Prenat Diagn. 2002 Oct;22(10):887-92.

PMID:
12378571
15.

Clinical and behavioral characteristics in FG syndrome.

Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM.

Am J Med Genet. 1999 Aug 27;85(5):470-5.

PMID:
10405444
16.

Complete trisomy 22.

Shokeir MH.

Clin Genet. 1978 Sep;14(3):139-46.

PMID:
568044
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Unexplained mental retardation: is brain MRI useful?

Decobert F, Grabar S, Merzoug V, Kalifa G, Ponsot G, Adamsbaum C, des Portes V.

Pediatr Radiol. 2005 Jun;35(6):587-96. Epub 2005 Mar 1.

PMID:
15739114
19.

Cutis verticis gyrata-mental deficiency syndrome: report of a case with unusual neuroradiological findings.

Farah S, Farag T, Sabry MA, Simeonov ST, al-Khattam S, Abulhassan SJ, Quasrawi B, al-Busairi W, al-Awadi SA.

Clin Dysmorphol. 1998 Apr;7(2):131-4.

PMID:
9571285
20.

Focal pachypolymicrogyria in three siblings.

Yoshimura K, Hamada F, Tomoda T, Wakiguchi H, Kurashige T.

Pediatr Neurol. 1998 May;18(5):435-8.

PMID:
9650687
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