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Baraitser–Winter cerebrofrontofacial syndrome

Clinical genetics, 2017-07, Vol.92 (1), p.3-9

2017

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High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis

Journal of medical genetics, 2008-06, Vol.45 (6), p.355-361

2008

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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

Neurology, 1999-07, Vol.53 (2), p.270

1999

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Journal of medical genetics, 2006-05, Vol.43 (5), p.451-456

2006

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Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1

Human molecular genetics, 1999-09, Vol.8 (9), p.1757-1760

1999

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LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

Human molecular genetics, 1998-12, Vol.7 (13), p.2029-2037

1998

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Identification of five novel SPRED1 germline mutations in Legius syndrome

Clinical genetics, 2011-07, Vol.80 (1), p.93-96

2011

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Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

American journal of neuroradiology : AJNR, 2022-11, Vol.43 (11), p.1660-1666

2022

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Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo , heterozygous, loss-of-function mutations in ASXL3 and review of published literature

Journal of medical genetics, 2017-08, Vol.54 (8), p.537

2017

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Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

Journal of medical genetics, 2006-02, Vol.43 (2), p.143-147

2006

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Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

American journal of medical genetics. Part A, 2008-12, Vol.146A (24), p.3173-3180

2008

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The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Autophagy, 2018-01, Vol.14 (1), p.22-37

2018

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Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.38-44

2005

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Anophthalmia-esophageal-genital syndrome: A further case to define the phenotype

American journal of medical genetics, 2005-01, Vol.132A (1), p.57-59

2005

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

Brain (London, England : 1878), 2006-01, Vol.129 (1), p.272-277

2006

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Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

American journal of human genetics, 2003-04, Vol.72 (4), p.918-930

2003

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Syndromes with lissencephaly

Journal of medical genetics, 1996-04, Vol.33 (4), p.319-323

1996

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Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

Annals of neurology, 1999-02, Vol.45 (2), p.154-161

1999

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Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

American journal of human genetics, 2006-04, Vol.78 (4), p.702-707

2006

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Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS)

Genomics (San Diego, Calif.), 1999-03, Vol.56 (2), p.179-183

1999

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Sequence variation at the phenylalanine hydroxylase gene in the British Isles

American journal of human genetics, 1997-02, Vol.60 (2), p.388-396

1997

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Large-scale discovery of novel genetic causes of developmental disorders

Nature (London), 2015-03, Vol.519 (7542), p.223-228

2015

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Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

European journal of human genetics : EJHG, 2001-01, Vol.9 (1), p.5-12

2001

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The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

Human molecular genetics, 2000-12, Vol.9 (20), p.3019-3028

2000

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Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation

Journal of medical genetics, 1998-10, Vol.35 (10), p.829-832

1998

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Baraitser–Winter cerebrofrontofacial syndrome

High frequency of genomic deletions—and a duplication—in the LIS1 gene in lissencephaly: implications for molecular diagnosis

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Subcortical Band Heterotopia in Rare Affected Males Can be Caused by Missense Mutations in DCX (XLIS) or LIS1

LIS1 and XLIS (DCX) Mutations Cause Most Classical Lissencephaly, but Different Patterns of Malformation

Identification of five novel SPRED1 germline mutations in Legius syndrome

Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo , heterozygous, loss-of-function mutations in ASXL3 and review of published literature

Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections

Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity

Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter

Anophthalmia-esophageal-genital syndrome: A further case to define the phenotype

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

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Syndromes with lissencephaly

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome

Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS)

Sequence variation at the phenylalanine hydroxylase gene in the British Isles

Large-scale discovery of novel genetic causes of developmental disorders

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene

Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation

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