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Items: 1 to 20 of 239

1.

Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition.

Hernández A, Reynoso MC, Soto F, Quiñones D, Nazará Z, Fragoso R.

Clin Genet. 1989 Dec;36(6):456-8.

PMID:
2591072
2.

Achalasia and microcephaly.

Dumars KW, Williams JJ, Steele-Sandlin C.

Am J Med Genet. 1980;6(4):309-14.

PMID:
7211947
4.

Filippi syndrome: a new case with skeletal abnormalities.

Héron D, Billette de Villemeur T, Munnich A, Lyonnet S.

J Med Genet. 1995 Aug;32(8):659-61. Review.

5.

Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance.

Alanay Y, Boduroglu K, Sönmez B, Orhan M.

Am J Med Genet A. 2004 Sep 15;130A(1):92-5.

PMID:
15368502
6.
7.

Alopecia, mental retardation, epilepsy and microcephaly in two cousins.

Pridmore C, Baraitser M, Brett EM.

Clin Dysmorphol. 1992 Apr;1(2):79-84.

PMID:
1345516
8.

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
9.

Filippi syndrome: report of three additional cases.

Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA.

Am J Med Genet. 1999 Nov 19;87(2):128-33. Review.

PMID:
10533026
10.

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.

Børglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA, Hertz JM.

Eur J Hum Genet. 2001 Oct;9(10):753-7.

11.

Autosomal recessive microcephaly and micromelia in Cree Indians.

Ives EJ, Houston CS.

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

PMID:
7468660
12.

Provisionally unique autosomal recessive syndrome due to significant consanguinity.

Avegno J, Tilton AH, Lacassie Y.

Am J Med Genet. 2001 Sep 1;102(4):324-6.

PMID:
11503158
13.

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
14.

A syndrome of alacrima, achalasia, and neurologic anomalies without adrenocortical insufficiency.

el-Rayyes K, Hegab S, Besisso M.

J Pediatr Ophthalmol Strabismus. 1991 Jan-Feb;28(1):35-7.

PMID:
2019957
15.

Neu-Laxova syndrome: report of a case from Turkey.

Kuseyri F, Bilge I, Bilgiç L, Apak MY.

Clin Genet. 1993 May;43(5):267-9.

PMID:
8375108
16.
17.

Hereditary spastic diplegia with mental retardation in two young siblings.

Gustavson KH, Modrzewska K, Erikson A.

Clin Genet. 1989 Dec;36(6):439-41.

PMID:
2591069
18.
19.

A new case of Martsolf syndrome.

Bora E, Cankaya T, Alpman A, Karaca E, Cogulu O, Tekgul H, Ozkinay F.

Genet Couns. 2007;18(1):71-5.

PMID:
17515302
20.

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