The link between cytogenetics and mendelism.

[1]  M. Digilio,et al.  Transposition of the great arteries associated with deletion of chromosome 22q11. , 1995, The American journal of cardiology.

[2]  M. Rocchi,et al.  Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids , 1994, Clinical genetics.

[3]  H. Zoghbi,et al.  Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. , 1994, American journal of medical genetics.

[4]  I. Dunham,et al.  Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease. , 1993, Human molecular genetics.

[5]  B. Dallapiccola,et al.  Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. , 1993, American journal of medical genetics.

[6]  R. Happle,et al.  MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. , 1993, American journal of medical genetics.

[7]  M. Mattéi,et al.  Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome. , 1993, Human molecular genetics.

[8]  E. Zackai,et al.  Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. , 1993, Journal of medical genetics.

[9]  N. Tommerup.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders. , 1993, Journal of medical genetics.

[10]  D. Ledbetter,et al.  Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats , 1993, Nature.

[11]  P. Scambler,et al.  Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. , 1993, Genomics.

[12]  G. Schellenberg,et al.  Genetic heterogeneity in families with hereditary multiple exostoses. , 1993, American journal of human genetics.

[13]  P. Scambler,et al.  Deletions of human chromosome 22 and associated birth defects. , 1993, Current opinion in genetics & development.

[14]  G. Borsani,et al.  Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting , 1993, Nature Genetics.

[15]  C. Baldwin,et al.  Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). , 1993, American journal of human genetics.

[16]  J. Sikela,et al.  FISH ordering of reference markers and of the gene for the α5 subunit of the γ-aminobutyric acid receptor (GABRA5) within the Angelman and Prader–Willi syndrome chromosomal regions , 1993 .

[17]  R. Shprintzen,et al.  Velo-cardio-facial syndrome: a review of 120 patients. , 1993, American journal of medical genetics.

[18]  E. Mariman,et al.  Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. , 1993, American journal of human genetics.

[19]  J. Biegel,et al.  Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma , 1993, Nature Genetics.

[20]  R. Spritz,et al.  A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism , 1993, Nature.

[21]  M. Tassabehji,et al.  Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2 , 1993, Nature Genetics.

[22]  W. Bickmore,et al.  Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. , 1992, American journal of human genetics.

[23]  S. Leff,et al.  Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region , 1992, Nature Genetics.

[24]  J. Burn,et al.  A prospective cytogenetic study of 36 cases of DiGeorge syndrome. , 1992, American journal of human genetics.

[25]  M. Pembrey,et al.  Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome. , 1992, American journal of medical genetics.

[26]  E. Zackai,et al.  Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. , 1992, American journal of medical genetics.

[27]  P. Scambler,et al.  Deletions within chromosome 22q11 in familial congenital heart disease , 1992, The Lancet.

[28]  D. Ledbetter,et al.  Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis , 1992 .

[29]  M. Lyon,et al.  The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes , 1992, Science.

[30]  D. J. Driscoll,et al.  A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. , 1992, Genomics.

[31]  D. Ledbetter,et al.  Causal heterogeneity in isolated lissencephaly , 1992, Neurology.

[32]  A. Jeffreys,et al.  The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. , 1992, The New England journal of medicine.

[33]  R. Shprintzen,et al.  Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus , 1992, The Lancet.

[34]  B. Emanuel,et al.  A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. , 1992, American journal of human genetics.

[35]  G. Thomas,et al.  Screening of microdeletions of chromosome 20 in patients with Alagille syndrome. , 1992, Journal of medical genetics.

[36]  C. Disteche,et al.  Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. , 1992, American journal of human genetics.

[37]  M. Bartolomei,et al.  Physical linkage of two mammalian imprinted genes, H19 and insulin–like growth factor 2 , 1992, Nature genetics.

[38]  D. Ledbetter,et al.  Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. , 1992, American journal of human genetics.

[39]  A. Latos-Bieleńska,et al.  Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. , 1991, American journal of human genetics.

[40]  A. Prader,et al.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. , 1991, American journal of human genetics.

[41]  G. Turner,et al.  Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). , 1991, Journal of medical genetics.

[42]  Y. Fukushima,et al.  DNA deletion and its parental origin in Angelman syndrome patients. , 1991, American journal of medical genetics.

[43]  K. Glatt,et al.  Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. , 1991, American journal of human genetics.

[44]  J. Burn,et al.  Alagille syndrome and deletion of 20p. , 1990, Journal of medical genetics.

[45]  N. Lemieux,et al.  Chromosome evolution and high-resolution analysis of leucocytes, bone marrow, and tumor cells of retinoblastoma patients. , 1990, American journal of medical genetics.

[46]  J. Zonana,et al.  Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. , 1990, American journal of medical genetics.

[47]  W. Dobyns.  The neurogenetics of lissencephaly. , 1989, Neurologic clinics.

[48]  Charles R.scriver,et al.  The Metabolic basis of inherited disease , 1989 .

[49]  S. Cassidy.  Recurrence risk in Prader-Willi syndrome. , 1987, American journal of medical genetics.

[50]  R. Schmickel.  Contiguous gene syndromes: a component of recognizable syndromes. , 1986, The Journal of pediatrics.

[51]  J. Friedman,et al.  del(20p) with manifestations of arteriohepatic dysplasia. , 1986, American journal of medical genetics.

[52]  R. Pauli,et al.  Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. , 1986, American journal of medical genetics.

[53]  J. Opitz,et al.  Interstitial deletion of (17)(p11.2p11.2) in nine patients. , 1986, American journal of medical genetics.

[54]  E. Bühler,et al.  The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities? , 1984, American journal of medical genetics.

[55]  M. Butler,et al.  PARENTAL ORIGIN OF CHROMOSOME 15 DELETION IN PRADER-WILLI SYNDROME , 1983, The Lancet.

[56]  D. Ledbetter,et al.  Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases. , 1982, American journal of human genetics.

[57]  R. Pfeiffer.  Langer‐Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13–22) , 1980, Clinical genetics.