Physician
Medical Genetics
Dr. Joe J. Hoo, MD
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Dr. Joe J. Hoo is an expert in the field of Medical Genetics. is a published doctor. He has 101 papers published. The most current publication "Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome."
Publications
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
- FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.
- Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay.
- "Zwilling" versus "Tai Chi" configuration of double-sized ring chromosome.
- Difficulty in recognizing multiple sulfatase deficiency in an infant.
- Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit.
- Familial hyper- and hypopigmentation with age-related pattern change.
- Is brachydactyly type Ballard a variant of brachydactyly type E?
- Two sibs with brachyolmia type Hobaek: five year follow-up through puberty.
- Spontaneous coronary artery dissection presenting as acute myocardial infarction.
- A gene for FG syndrome maps in the Xq12-q21.31 region.
- Acupressure for hyperemesis gravidarum.
- Delineation of 14q32.3 deletion syndrome.
- Interstitial 6q deletion and Prader-Willi-like phenotype.
- Autosomal dominant transmission of familial laterality defects.
- Linear disruption of umbilical cord: a rare anomaly of the cord associated with acute fetal distress and perinatal death/profound psychomotor retardation.
- beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients.
- Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin.
- Identification, counselling, and outcome of two cases of prenatally diagnosed supernumerary small ring chromosomes.
- Evidence of chromosome 9 origin of the euchromatic variant band within 9qh.
- De novo concurrent 5p deletion and distal 17q duplication identified by fluorescence in situ hybridization (FISH).
- Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome.
- 3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome.
- Supernumerary isochromosome 4p in ANLL-M4 myelomonocytic type is associated with favorable prognosis.
- Partial trisomy 9q due to maternal 9/17 translocation.
- The ring nature of a tiny supernumerary chromosome fragment.
- A deleted extra chromosome 22 identified by DNA replication banding.
- Studies on the change of electrophoretic mobility and the decay of catalytic activity of brain-type creatine kinase isoenzyme (CK-BB) following incubation at 37 degree...
- A radioenzymatic assay of catechol-O-methyltransferase in hair root cells: comparison with erythrocyte activity.
- In vitro effect of haloperidol, chlorpromazine, imipramine and lithium on the erythrocyte catechol-O-methyltransferase.
- Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion.
- Confirmation of regional assignment of gene for human esterase-D to chromosome band 13q14.
- Familial tiny 9p/20p translocation: 9p24. The critical segment for monosomy 9p syndrome.
- Catechol-O-methyltransferase of erythrocytes in patients with endogenous psychoses.
- Interstitial duplication/deletion owing to unequal crossing-over in association with pericentric inversion.
- [Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination].
- Determination of brain type creatine kinase for diagnosis of perinatal asphyxia--choice of method.
- Alternative explanations for recurrent achondroplasia in siblings of normal parents.
- The effect of lithium, imipramine and chlorpromazine on the membrane bound enzyme phosphatidylethanolamine methyltransferase.
- Preparation of high resolution chromosomes from amniotic fluid cells.
- Two cases of variant Philadelphia chromosome resulting from translocation (21;22) and (3;19;22).
- Cytogenetics of Prader-Willi syndrome.
- [Activity of the creatine kinase isoenzyme CK-BB in the serum of neonates as an indicator of perinatal damage to the central nervous system].
- A de novo case of trisomy 10p: gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase.
- [Two further cases of faciodigitogenital syndrome (author''s transl)].
- On the position of chromosomes in prepared mitosis figures of human fibroblasts.
- Antenatal diagnosis of maple syrup urine disease.
- A case of 48,XXYY--paternal origin of the extra X chromosome.
- Supernumerary small ring chromosome.
- The behavior of ring chromosome 13.
- Familial short arm deletion of chromosome no. 15.
- Trisomy of the short arm of chromosome 17.
- Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters.
- A case of perineal hypospadias with paracentric inversion of chromosome 14.
- Thymus deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)pat rearrangement.
- The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.
- Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities.
- Triplication, partial tetrasomy or tetramere?
- Critical segment for 9p deletion syndrome.
- Tentative assignment of piebald trait gene to chromosome band 4q12.
- Inverted duplication of 22pter----q11.21 in cat-eye syndrome.
- Routine application of high resolution chromosome analysis.
- 18ph+ is a normal chromosomal variant.
- Familial congenital funnel chest.
- Karyotype-phenotype analysis: 9p deletion versus 10q2 duplication.
- Double supernumerary isochromosome 9p in myeloproliferative syndrome.
- High resolution pattern of an inverted duplication (15).
- Multiple, variable-sized, minute marker chromosomes.
- Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome.
- DA/DAPI pattern of marker chromosome: cytogenetics of cat eye syndrome.
- Effect of amphetamine on brain catecholamines, brain beta-endorphin, serum prolactin, catechol-O-methyltransferase and monoamine oxidase of various organs in the rat.
- Possible teratogenicity of sulfasalazine.
- A pseudoisochromosome 18q and an isodicentric chromosome 18.
- Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q.
- Chromosome 6q deletions: a report of two additional cases and a review of the literature.
- Origin of 46,XY/46,XY,r(19) mosaicism.
- Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome.
- Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, + mar by use of chromosome-specific DNA probes.
- Oculocerebrocutaneous (Delleman) syndrome: a pleiotropic disorder affecting ectodermal tissues with unilateral predominance.
- Tentative assignment of gene for oto-palato-digital syndrome to distal Xq (Xq26-q28).
- Chromosome aberrations and oncogene alterations in two new breast tumor cell lines.
- A new chromosome 9 variant: an extra band within the 9qh region.
- Confirmation of centromeric fusion in 7p/1q translocation associated with myelodysplastic syndrome.
- 12P trisomy: a syndrome?
- A simplified micromethod for the determination of the acetylator phenotype.
- Familial middle lobe bronchiectasis.
- Combination of differential sister chromatid staining, G-banding pattern, and X-inactivation pattern.
- The Aarskog (facio-digito-genital) syndrome.
- A note on the Xp.
- Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome.
- Pain sensitivity in schizophrenics.
- Clinical consequence of Xp-.
- Relation between the SCE points and the DNA replication bands.
- Letter: Evolution of X-chromosome inactivation.
- Letter: Cytogenetic evidence for evolution of X-chromosome inactivation.
- Desbuquois syndrome in three sisters with significantly different lengths of survival.
- Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31.
- Anodontia of permanent teeth (OMIM # 206780) and pegged/missing maxillary lateral incisors (OMIM # 150400) in the same family.
- Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31.
- Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome.
Schools
PhilippsUniversitaet Marburg Fachbereich Medizin
Mercy Hospital Of Buffalo
University Auckland
Doctors Specialties
- Clinical Cytogenetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna HMO
- Choice Plus POS II
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- Open Access Plus
- Commercial Insurance Company
- Health Insurance Plan of Greater New York (HIP) PPO
- Frontpath Health Coalition
- Medicaid
- Medical Mutual of Ohio
- Medicare MCR
- MultiPlan PPO
- PHCS Network PPO
- Priority PPO
- Navigate HMO
Education
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Philipps University of Marburg Faculty of Medicine
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