Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]URBAN, M; ROGALLA, P; TINSCHERT, S et al.American journal of medical genetics. 1997, Vol 72, Num 3, pp 307-314, issn 0148-7299Article

Pontine Tegmental Cap Dysplasia: The Severe End of the Clinical SpectrumRAUSCHER, C; PORETTI, A; NEUHANN, T. M et al.Neuropediatrics. 2009, Vol 40, Num 1, pp 43-46, issn 0174-304X, 4 p.Article

The spectrum of complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus'. Contribution of DNA linkage analysis in genetic counseling of individual familiesSCHRANDER-STUMPEL, C; MEYER, H; LEGIUS, E et al.Genetic counseling. 1994, Vol 5, Num 1, pp 1-10, issn 1015-8146Conference Paper

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor geneNÜRNBERG, P; TINSCHERT, S; MRUG, M et al.American journal of human genetics. 1997, Vol 61, Num 4, pp 918-923, issn 0002-9297Article

Zunich neuroectodermal syndrome : Migratory ichthyosiform dermatosis, colobomas, and other abnormalitiesTINSCHERT, S; ANTON-LAMPRECHT, I; ALBRECHT-NEBE, H et al.Pediatric dermatology. 1996, Vol 13, Num 5, pp 363-371, issn 0736-8046Conference Paper

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin : analysis of a family and review of the literatureGEDICKE, M. M; TRAUPE, H; FISCHER, B et al.British journal of dermatology (1951). 2006, Vol 154, Num 1, pp 167-171, issn 0007-0963, 5 p.Article

Refinement of the chromosome 5p locus for craniometaphyseal dysplasiaCHANDLER, D; TINSCHERT, S; LOHAN, K et al.Human genetics. 2001, Vol 108, Num 5, pp 394-397, issn 0340-6717Article

Fetal trisomy 10 mosaicism : Ultrasound, cytogenetic and morphologic findings in early pregnancyKNOBLAUCH, H; SOMMER, D; ZIMMER, C et al.Prenatal diagnosis. 1999, Vol 19, Num 4, pp 379-382, issn 0197-3851Article

Two novel mutations in exons 19a and 20 and a Bsal polymorphism in a newly characterized intron of the neurofibromatosis type 1 geneKLOSE, A; ROBINSON, P. N; GEWIES, A et al.Human genetics. 1998, Vol 102, Num 3, pp 367-371, issn 0340-6717Article

The Kabuki (Niikawa-Kuroki) syndrome : further delineation of the phenotype in 29 non-Japanese patientsSCHRANDER-STUMPEL, C; MEINECKE, P; MAAT-KIEVIT, A et al.European journal of pediatrics. 1994, Vol 153, Num 6, pp 438-445, issn 0340-6199Article

Routine applications of DNA fingerprinting with the oligonucleotide probe (CAC)₅/(GTG)₅NEITZEL, H; DIGWEED, M; NUÊRNBERG, P et al.Clinical genetics. 1991, Vol 39, Num 2, pp 97-103, issn 0009-9163, 7 p.Article

Macrocephaly, Obesity, Mental (Intellectual) Disability, and Ocular Abnormalities: Alternative Definition and Further Delineation of MOMO SyndromeDI DONATO, N; RIESS, A; HACKMANN, K et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2857-2862, issn 1552-4825, 6 p.Article

Two independent mutations in a family with neurofibromatosis type 1 (NF1)KLOSE, A; PETERS, H; HOFFMEYER, S et al.American journal of medical genetics. 1999, Vol 83, Num 1, pp 6-12, issn 0148-7299Article

Spontaneous remission of chiasmatic/hypothalamic masses in neurofibromatosis type 1 : report of two casesGOTTSCHALK, S; TAVAKOLIAN, R; BUSKE, A et al.Neuroradiology (Berlin. Print). 1999, Vol 41, Num 3, pp 199-201, issn 0028-3940Conference Paper

Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndromeURBAN, M; OPITZ, C; BOMMER, C et al.American journal of medical genetics. 1998, Vol 79, Num 3, pp 155-160, issn 0148-7299Article

Patchy dermal hypoplasia as a characteristic feature of proteus syndromeHAPPLE, R; STEIJLEN, P. M; THEILE, U et al.Archives of dermatology (1960). 1997, Vol 133, Num 1, pp 77-80, issn 0003-987XArticle

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1) : clinical review with six additional familiesSCHRANDER-STUMPEL, C; HÖWELER, C; JONES, M et al.American journal of medical genetics. 1995, Vol 57, Num 1, pp 107-116, issn 0148-7299Article

Two recurrent nonsense mutations and a 5 bp deletion in a quasi-symmetric element in exon 37 of the NF1 geneROBINSON, P. N; BÖDDRICH, A; PETERS, H et al.Human genetics. 1995, Vol 96, Num 1, pp 95-98, issn 0340-6717Article