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Items: 1 to 20 of 106

1.

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.

Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG.

Am J Med Genet A. 2011 Dec;155A(12):3035-41. doi: 10.1002/ajmg.a.34078. Epub 2011 Oct 14.

2.

The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees.

Barth PG, Blennow G, Lenard HG, Begeer JH, van der Kley JM, Hanefeld F, Peters AC, Valk J.

Neurology. 1995 Feb;45(2):311-7.

PMID:
7854532
3.

A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.

Hreidarsson S, Kristjansson K, Johannesson G, Johannsson JH.

Acta Paediatr Scand. 1988 Sep;77(5):773-5.

PMID:
3201986
4.

Autosomal recessive microcephaly with early onset seizures and spasticity.

Silengo M, Lerone M, Martinelli M, Martucciello G, Caffarena PE, Jasonni V, Romeo G.

Clin Genet. 1992 Sep;42(3):152-5.

PMID:
1395086
5.

Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.

Garty BZ, Eisenstein B, Sandbank J, Kaffe S, Dagan R, Gadoth N.

J Med Genet. 1994 Feb;31(2):121-5.

6.

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
7.

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G.

Am J Med Genet A. 2007 Jun 1;143A(11):1135-42.

PMID:
17497718
8.

Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?

García-Ortiz JE, García-Cruz D, Dávalos IP, Nazará Z, García-Cruz MO, Castañeda V, Gutiérrez-Mendivil L, Sánchez-Corona J.

Clin Dysmorphol. 2007 Jan;16(1):15-20.

PMID:
17159509
9.

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V.

J Med Genet. 2015 Jun;52(6):381-90. doi: 10.1136/jmedgenet-2014-102707. Epub 2015 Apr 14.

PMID:
25873735
10.

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Jenkinson EM, Kingston H, Urquhart J, Khan N, Melville A, Swinton M, Crow YJ, Davis JR, Trump D, Newman WG.

Am J Med Genet A. 2011 Dec;155A(12):2910-5. doi: 10.1002/ajmg.a.34292. Epub 2011 Oct 14.

PMID:
22002932
11.

WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.

Jiang C, Gai N, Zou Y, Zheng Y, Ma R, Wei X, Liang D, Wu L.

Clin Chim Acta. 2017 Jan;464:24-29. doi: 10.1016/j.cca.2016.10.029. Epub 2016 Oct 28.

PMID:
27983999
12.

Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity.

Silengo MC, Bell GL, Biagioli M, Guala A, Bianco R, Strandoni P, De Sario PN, Franceschini P.

Clin Genet. 1986 Dec;30(6):481-4.

PMID:
3815881
13.

Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?

Mégarbané A, Haddad-Zebouni S, Nabbout R, Khoury AH, Traboulsi EI.

Am J Med Genet. 1999 Mar 12;83(2):82-7.

PMID:
10190477
14.

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

Abdel-Salam GM, Schaffer AE, Zaki MS, Dixon-Salazar T, Mostafa IS, Afifi HH, Gleeson JG.

Am J Med Genet A. 2012 Nov;158A(11):2788-96. doi: 10.1002/ajmg.a.35583. Epub 2012 Sep 18.

15.

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
16.

Autosomal recessive microcephaly and micromelia in Cree Indians.

Ives EJ, Houston CS.

Am J Med Genet. 1980;7(3):351-60.

PMID:
7468660
17.

Microlissencephaly.

Sztriha L, Al-Gazali L, Várady E, Nork M, Varughese M.

Pediatr Neurol. 1998 Apr;18(4):362-5. Review.

PMID:
9588537
18.

A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.

Tutak E, Satar M, Yapicioğlu H, Altintaş A, Narli N, Hergüner O, Bayram Y.

Genet Couns. 2009;20(2):147-52.

PMID:
19650412
19.

Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

Bastaki F, Mohamed M, Nair P, Saif F, Tawfiq N, Aithala G, El-Halik M, Al-Ali M, Hamzeh AR.

Congenit Anom (Kyoto). 2016 May;56(3):135-7. doi: 10.1111/cga.12144.

PMID:
26577670
20.

Autosomal recessive microcephaly with severe psychomotor retardation.

Scheffer IE, Baraitser M, Wilson J, Godfrey C, Brett EM.

Neuropediatrics. 1992 Feb;23(1):53-6.

PMID:
1565220

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