| P2093 | author name string | Marleen E H Simon | |
| | Merel C van Maarle | |
| | Christine E de Die-Smulders | |
| | Klaske D Lichtenbelt | |
| | Irene Stolte-Dijkstra | |
| | Anthonie J van Essen | |
| | Grazia M Mancini | |
| | Aimée D C Paulussen | |
| | Alexander P A Stegmann | |
| | Arie van Haeringen | |
| | Eric E J G L Smeets | |
| | Wilhelmina S Kerstjens-Frederikse | |
| | Alice S Brooks | |
| | Anneke Maat-Kievit | |
| | Augusta M A Lachmeijer | |
| | Constance T Schrander-Stumpel | |
| | Demis C J Tserpelis | |
| | Gita M B Tan-Sindhunata | |
| | Hubertus J Smeets | |
| | Johanna C Herkert | |
| | John J M Engelen | |
| | Jos Herbergs | |
| | Margriet Collée | |
| | Matteus K M Spee | |
| | Mei L Kwee | |
| | Yolande van Bever | |
| | Yvonne H J M Arens | |
| P2860 | cites work | Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired | Q22003954 |
| | Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly | Q22009990 |
| | Mutations in the human SIX3 gene in holoprosencephaly are loss of function | Q24312256 |
| | First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations | Q24674679 |
| | Functional analysis of mutations in TGIF associated with holoprosencephaly | Q24681018 |
| | Mutations in the human Sonic Hedgehog gene cause holoprosencephaly | Q28116314 |
| | Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination | Q28145579 |
| | Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly | Q28213823 |
| | Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis | Q28216639 |
| | Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations | Q28268918 |
| | Holoprosencephaly | Q31097430 |
| | Single median maxillary central incisor: new data and mutation review. | Q31116560 |
| | Holoprosencephaly: variation of expression in face and brain in three sibs | Q33598469 |
| | Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination | Q33941229 |
| | SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature | Q34084974 |
| | In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation | Q34375184 |
| | Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals | Q35528156 |
| | Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity | Q35682457 |
| | Evaluation and management of children with holoprosencephaly | Q35859115 |
| | A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease | Q36395314 |
| | Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function | Q36435480 |
| | Holoprosencephaly: clinical, anatomic, and molecular dimensions | Q36604059 |
| | Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features | Q37089385 |
| | The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism | Q37172916 |
| | The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis | Q37411003 |
| | Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans | Q37415443 |
| | Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly | Q41090374 |
| | Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation | Q41921341 |
| | Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly | Q41925556 |
| | THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY) | Q41939605 |
| | Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly | Q44972124 |
| | Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly. | Q46034684 |
| | The middle interhemispheric variant of holoprosencephaly | Q46314611 |
| | A highly conserved amino-terminal region of sonic hedgehog is required for the formation of its freely diffusible multimeric form. | Q46844179 |
| | Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci | Q48620864 |
| | Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and nosologic considerations. | Q51290048 |
| | Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. | Q51951452 |
| | Holoprosencephaly-like phenotype: clinical and genetic perspectives. | Q52006156 |
| | Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. | Q52109508 |
| | The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. | Q52173272 |
| | Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly | Q56378174 |
| | Alobar Holoprosencephaly (Arhinencephaly) with Median Cleft Lip and Palate: Clinical, Electroencephalographic and Nosologic Considerations (Part 1 of 2) | Q61948577 |
| | A new mutation in the six-domain of SIX3 gene causes holoprosencephaly | Q73096955 |
| | SIX3 mutations with holoprosencephaly | Q79139149 |
| | Phenotypic and molecular variability of the holoprosencephalic spectrum | Q80364155 |
| | MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly | Q80758795 |
| | Variable phenotypic manifestations of a K44N mutation in the TGIF gene | Q81158670 |
| | SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor | Q81825029 |
| | Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype | Q83921772 |
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | holoprosencephaly | Q1459821 |
| P304 | page(s) | 999-1005 | |
| P577 | publication date | 2010-06-09 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes | |
| P478 | volume | 18 | |