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Items: 1 to 20 of 99

1.

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.

Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME.

Am J Med Genet A. 2007 Dec 1;143A(23):2761-7.

PMID:
17975804
2.

Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome.

Abdel-Salam GM, Zaki MS, Saleem SN, Gaber KR.

Am J Med Genet A. 2008 Nov 15;146A(22):2929-36. doi: 10.1002/ajmg.a.32549.

PMID:
18925673
3.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A.

Neurology. 2009 Sep 22;73(12):962-9. doi: 10.1212/WNL.0b013e3181b8799a.

PMID:
19770472
4.

Lethal X-linked microcephaly with dysmorphic features, bilateral optic pathway aplasia and normal eyes.

Fabian VA, Nelson J, Smith NM, Urich H.

Acta Neuropathol. 2001 Oct;102(4):393-7.

PMID:
11603816
5.

Microcephaly associated with abnormal gyral pattern.

Sztriha L, Dawodu A, Gururaj A, Johansen JG.

Neuropediatrics. 2004 Dec;35(6):346-52.

PMID:
15627942
6.

Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification.

Nakamura K, Kato M, Sasaki A, Kanai M, Hayasaka K.

J Child Neurol. 2012 Feb;27(2):218-21. doi: 10.1177/0883073811416239. Epub 2011 Sep 21.

PMID:
21940696
7.

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

Abdel-Salam GM, Abdel-Hamid MS, Saleem SN, Ahmed MK, Issa M, Effat LK, Kayed HF, Zaki MS, Gaber KR.

Am J Med Genet A. 2012 Aug;158A(8):1823-31. doi: 10.1002/ajmg.a.35480. Epub 2012 Jul 11.

PMID:
22786707
8.

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Abdel-Salam GM, Abdel-Hamid MS, El-Khayat HA, Eid OM, Saba S, Farag MK, Saleem SN, Gaber KR.

Am J Med Genet A. 2015 May;167A(5):1089-99. doi: 10.1002/ajmg.a.37010. Epub 2015 Mar 10.

PMID:
25755095
9.

The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.

Hunter AG, Woerner SJ, Montalvo-Hicks LD, Fowlow SB, Haslam RH, Metcalf PJ, Lowry RB.

Am J Med Genet. 1979;3(3):269-79.

PMID:
484596
10.

Microcephaly with simplified gyral pattern: MRI classification.

Vermeulen RJ, Wilke M, Horber V, Krägeloh-Mann I.

Neurology. 2010 Feb 2;74(5):386-91. doi: 10.1212/WNL.0b013e3181ce5d82.

PMID:
20124203
11.

Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

Desir J, Cassart M, David P, Van Bogaert P, Abramowicz M.

Am J Med Genet A. 2008 Jun 1;146A(11):1439-43. doi: 10.1002/ajmg.a.32312.

PMID:
18452193
12.

Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space.

Hirose M, Haginoya K, Yokoyama H, Kikuchi A, Hino-Fukuyo N, Munakata M, Uematsu M, Iinuma K, Kato M, Yamamoto T, Tsuchiya S.

Neuropediatrics. 2011 Aug;42(4):163-6. doi: 10.1055/s-0031-1287771. Epub 2011 Sep 19.

PMID:
21932181
13.

Familial lissencephaly with extreme neopallial hypoplasia.

Barth PG, Mullaart R, Stam FC, Slooff JL.

Brain Dev. 1982;4(2):145-51.

PMID:
7091570
14.

Amish microcephaly: Long-term survival and biochemical characterization.

Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA.

Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373.

PMID:
20583149
15.

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

Chandler KE, Del Rio A, Rakshi K, Springell K, Williams DK, Stoodley N, Woods CG, Pilz DT.

Brain. 2006 Jan;129(Pt 1):272-7. Epub 2005 Nov 4.

PMID:
16272165
16.

Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation.

Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, Buob M, Kaindl AM, Morris-Rosendahl DJ.

Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59.

17.

Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.

Adachi Y, Poduri A, Kawaguch A, Yoon G, Salih MA, Yamashita F, Walsh CA, Barkovich AJ.

AJNR Am J Neuroradiol. 2011 Jun-Jul;32(6):1123-9. doi: 10.3174/ajnr.A2440. Epub 2011 Mar 31.

18.

Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs.

Guilherme R, Baumann C, Garel C, Huten Y, Oury JF, Delezoide AL.

Am J Med Genet A. 2008 Jul 15;146A(14):1775-80. doi: 10.1002/ajmg.a.32380. Review.

PMID:
18553517
19.

Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.

Sztriha L, Al-Gazali LI, Várady E, Goebel HH, Nork M.

Neuropediatrics. 1999 Jun;30(3):141-5.

PMID:
10480209
20.

Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings.

ten Donkelaar HJ, Wesseling P, Semmekrot BA, Liem KD, Tuerlings J, Cruysberg JR, de Wit PE.

Acta Neuropathol. 1999 Aug;98(2):203-11.

PMID:
10442561

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