Jia Woei Hou

Summary

Publications

  1. doi request reprint Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in Lowe syndrome
    Jia Woei Hou
    Department of Pediatrics, Chang Gung Memorial Hospital, Taipei, Taiwan
    J Formos Med Assoc 108:730-5. 2009
  2. doi request reprint Natural course of neonatal progeroid syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan, Taiwan
    Pediatr neonatol 50:102-9. 2009
  3. ncbi request reprint Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei
    Chang Gung Med J 27:373-8. 2004
  4. ncbi request reprint Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, 5, Fushing Street, Gueishan Shiang, Taoyuan, Taiwan 333, ROC
    Chang Gung Med J 27:685-90. 2004
  5. ncbi request reprint 49, XXXXY syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei, ROC
    Chang Gung Med J 27:551-4. 2004
  6. ncbi request reprint Long-term follow-up of Marshall-Smith syndrome: report of one case
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    Acta Paediatr Taiwan 45:232-5. 2004
  7. ncbi request reprint Chromosomal 10Q26 trisomy resulting from paternal T(9;10)(PTER;Q26.1)
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    J Formos Med Assoc 102:887-92. 2003
  8. ncbi request reprint Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan 333, Taiwan
    Am J Med Genet A 130:200-3. 2004
  9. ncbi request reprint Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei
    Chang Gung Med J 27:307-11. 2004
  10. ncbi request reprint A girl with congenital heart defect, deformed hands and a sacral mass
    Jia Woei Hou
    Department of Medical Genetics, Chang Gung Children s Hospital, Kwei Shan, Taoyuan, Taiwan
    Acta Paediatr Taiwan 43:1-3. 2002

Collaborators

Detail Information

Publications34

  1. doi request reprint Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in Lowe syndrome
    Jia Woei Hou
    Department of Pediatrics, Chang Gung Memorial Hospital, Taipei, Taiwan
    J Formos Med Assoc 108:730-5. 2009
    ..The beneficial osseous and renal effects of the bisphosphonate, along with growth hormone treatment in Lowe syndrome with hypophosphatemia, may be related to reduced renal calcium and phosphate excretion...
  2. doi request reprint Natural course of neonatal progeroid syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan, Taiwan
    Pediatr neonatol 50:102-9. 2009
    ..We discuss the natural course of the syndrome...
  3. ncbi request reprint Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei
    Chang Gung Med J 27:373-8. 2004
    ..2)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature...
  4. ncbi request reprint Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, 5, Fushing Street, Gueishan Shiang, Taoyuan, Taiwan 333, ROC
    Chang Gung Med J 27:685-90. 2004
    ..However, the mother was in good health, but the sister suffered from nephrolithiasis. The clinical variability in this family with the Xq duplication is reported and discussed...
  5. ncbi request reprint 49, XXXXY syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei, ROC
    Chang Gung Med J 27:551-4. 2004
    ..He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing...
  6. ncbi request reprint Long-term follow-up of Marshall-Smith syndrome: report of one case
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    Acta Paediatr Taiwan 45:232-5. 2004
    ..Besides, brain atrophy with hypoplastic cerebellum and brainstem, and bilateral hydronephrosis with hydroureter were detected by image studies...
  7. ncbi request reprint Chromosomal 10Q26 trisomy resulting from paternal T(9;10)(PTER;Q26.1)
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    J Formos Med Assoc 102:887-92. 2003
    ..The translocated 10q segments in most cases of 10q trisomy originate from the father. Imprinting effect may exist in this chromosomal syndrome; distal 10q trisomy from paternal reciprocal translocations is more compatible with life...
  8. ncbi request reprint Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan 333, Taiwan
    Am J Med Genet A 130:200-3. 2004
    ..She had a de novo reciprocal translocation between chromosomes 3q13.2 and 12p11.2. Certain gene(s) located at either of the breakpoints, 3q13.2 and 12p11.2, may be involved in the pathogenesis of her arhinia...
  9. ncbi request reprint Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei
    Chang Gung Med J 27:307-11. 2004
    ..These findings further suggested the autosomal inheritance (from the father to two sons and one daughter) in KS and highlighted the overlapping phenotype with van der Woude syndrome...
  10. ncbi request reprint A girl with congenital heart defect, deformed hands and a sacral mass
    Jia Woei Hou
    Department of Medical Genetics, Chang Gung Children s Hospital, Kwei Shan, Taoyuan, Taiwan
    Acta Paediatr Taiwan 43:1-3. 2002
  11. ncbi request reprint Smith-Magenis syndrome: report of one case
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, 5, Fu Shing St Kwei Shan, Taoyuan 333, Taiwan
    Acta Paediatr Taiwan 44:161-4. 2003
    ..However, the microdeletion was found in all metaphases by fluorescence in situ hybridization study with the probe D17S29 (for Smith-Magenis critical region on 17p11.2). Her sleep disorder improved after the use of melatonin...
  12. ncbi request reprint Chromosome 10q24.3-qter deletion associated with left-sided first branchial arch defect, diaphragmatic eventration, and duplicated renal pelvis
    Jia Woei Hou
    Department of Pediatrics, Division of Medical Genetics, Chang Gung Children s Hospital and Chang Gung Institute of Technology, Taoyuan, Taiwan
    Am J Med Genet A 140:2241-4. 2006
  13. doi request reprint Van der Woude syndrome: clinical presentation in 64 patients
    Jung Ju Huang
    Craniofacial Center, Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan
    Cleft Palate Craniofac J 44:649-52. 2007
    ..Van der Woude syndrome, characterized by lip pits and cleft lip/ palate, presents with variable expressions. This retrospective study was designed to obtain a better understanding of its clinical pattern in Taiwanese patients...
  14. ncbi request reprint Supernumerary chromosome marker Der(22)t(11;22) resulting from a maternal balanced translocation
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan, ROC
    Chang Gung Med J 26:48-52. 2003
    ..3;q11.2). The clinical features, including craniofacial dysmorphism, hypotonia, psychomotor retardation, heart defects, and urogenital anomalies, were the combined effects of partial trisomies for both distal 11q and pericentromeric 22q...
  15. ncbi request reprint Partial chromosomal 11q trisomy as an unbalanced result of t(11;13)(q23.1;q34)mat in two sisters
    Jia Woei Hou
    Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    J Formos Med Assoc 103:239-43. 2004
    ..The phenotypes of both sisters are most likely to be related to partial trisomy of 11q and a triplicated gene dosage of MLL...
  16. ncbi request reprint Rubinstein-Taybi syndrome: clinical and molecular cytogenetic studies
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    Acta Paediatr Taiwan 46:143-8. 2005
    ..Thus, the rate for detecting interstitial submicroscopic deletion of this region by FISH was about 30% in these RTS patients. The disease severity seemed to be correlated with size of the deletion...
  17. doi request reprint Rapidly progressive scoliosis after successful treatment for osteopenia in Costello syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital and Chang Gung Institute of Technology, Taoyuan, Taiwan
    Am J Med Genet A 146:393-6. 2008
  18. ncbi request reprint Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan, ROC
    Chang Gung Med J 28:657-61. 2005
    ..This case further delineated the clinical entity of duplicated 22q13 or distal trisomy 22...
  19. ncbi request reprint Fetal warfarin syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, 5, Fushing Street, Gueishan Shiang, Taoyuan, Taiwan 333, ROC
    Chang Gung Med J 27:691-5. 2004
    ..The pathogenesis and management of FWS are discussed...
  20. ncbi request reprint Restrictive dermopathy in two sisters
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei, Taiwan, ROC
    Chang Gung Med J 26:510-4. 2003
    ..This kind of stiff skin defect may lead to a fetal akinesia/hypokinesia deformation sequence, which causes the facial abnormalities of RD, as presented in these cases...
  21. ncbi request reprint Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis
    Tang Her Jaing
    Division of Hematology Oncology, Department of Pediatrics, Chang Gung University and Children s Hospital, Taoyuan, Taiwan
    Pediatr Transplant 10:629-31. 2006
    ..This case suggests that unrelated donor CBT may be a feasible option in case of unavailability of a fully HLA-matched related or unrelated donor...
  22. ncbi request reprint Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis: report of a family
    Meng Hao Chen
    Division of Nephrology, Chang Gung Memorial Hospital, Keelung, Taiwan
    Am J Nephrol 22:376-80. 2002
    ..It is possible that a mutated neurofibromatosis gene developed in the ADPKD mother with subsequent inherence of both ADPKD and NF genes in her 2 sons...
  23. ncbi request reprint Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei, Taiwan 333, ROC
    Chang Gung Med J 27:129-33. 2004
    ..A plasma tandem mass study confirmed this diagnosis. The biotinase activity in serum was normal, indicating that this was a rare case of late-onset HCS deficiency...
  24. ncbi request reprint Double partial monosomies (10p- and Xp-) in a female baby with choanal atresia
    Jia Woei Hou
    Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan, ROC
    Chang Gung Med J 25:260-5. 2002
    ..No submicroscopic chromosome 22q11 deletion could be found by FISH. Thus this very rare coexistence of double independent partial monosomies was confirmed. There are no previous reports of such concurrent double partial monosomies...
  25. ncbi request reprint Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    J Formos Med Assoc 103:629-32. 2004
    ..MKKS may be considered as a variant of BBS. Careful monitoring for the complications of BBS including ophthalmologic, neurologic, and urologic assessments should be performed in patients with MKKS...
  26. ncbi request reprint Recurrent panniculitis associated with generalized lipodystrophy and growth hormone deficiency
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    J Formos Med Assoc 104:518-21. 2005
    ..Acquired GLD with GH deficiency (e.g., recurrent panniculitis) may occur as a result of chronic inflammation over the pituitary stalk and pituitary gland. The use of steroid and GH replacement may alleviate this disorder...
  27. ncbi request reprint Electroclinical characteristics of seizures-comparing Prader--Willi syndrome with Angelman syndrome
    Pen Jung Wang
    Department of Pediatrics, Tzu Chi University and Medical Center, 701, Sec 3, Chung Yang Road, Hualien, Taiwan
    Brain Dev 27:101-7. 2005
    ..Some patients with PWS and AS share the common EEG features of persistent high-amplitude 4-6 Hz activity in recordings during sleep, and while awake. The significance of such EEG findings needs further experience to clarity...
  28. ncbi request reprint Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism
    Hui Fang Hsu
    Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    Am J Med Genet A 143:1739-48. 2007
    ..Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and polycystic kidney may contribute to their clinical courses...
  29. ncbi request reprint Del (9p) syndrome: report of four cases
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, No 5, Fu Shin Street, Kweishan, Taoyuan, Taiwan
    Acta Paediatr Taiwan 44:50-3. 2003
    ..Long-term follow-up in these patients showed that neuro-psychiatric problems were common in their later ages...
  30. ncbi request reprint A 20-year follow-up of a male patient with type Ia glycogen storage disease
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, 5 7, Fushing Street, Gueishan Shiang, Taoyuan, Taiwan 333, ROC
    Chang Gung Med J 26:283-7. 2003
    ..The problem of delayed puberty persisted. The story of this patient illustrates the multisystemic nature of GSD Ia and highlights the need for careful dietary therapy and long-term follow-up...
  31. ncbi request reprint Matched unrelated bone marrow transplantation without splenectomy for a child with Gaucher disease caused by homozygosity of the L444P mutation, who also suffered from schizencephaly
    Rong Long Chen
    Department of Pediatrics, Buddhist Tzu Chi University, Hualien, Taiwan
    J Pediatr Hematol Oncol 29:57-9. 2007
    ..The strategy of BMT without splenectomy after a period of enzyme replacement may be feasible in neuronopathic GD...
  32. ncbi request reprint Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome
    Jia Woei Hou
    Division of Medical Genetics, Department of Paediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
    Acta Paediatr 95:1500-4. 2006
    ..This report highlights the unusual AAS in a boy with LNS presenting recurrent consciousness change. The mutation described herein is a hitherto unreported splicing error leading to exon 6 skipping of the HPRT gene...
  33. ncbi request reprint Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies
    Jia Woei Hou
    Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan, ROC
    Chang Gung Med J 28:643-50. 2005
    ..3 region to be responsible for genetically heterogeneous diseases. In this study, fluorescence in situ hybridization (FISH) methods were used to detect the extent of gene deletion related to the phenotypes of patients with Xp-CGS...
  34. ncbi request reprint Developmental profiles and mentality in preschool children with Prader-Willi syndrome: a preliminary study
    Chien Min Chen
    Department of Physical Medicine and Rehabilitation, Chang Gung Memorial Hospital at Chiayi, Chang Gung University College of Medicine, Taoyuan, Taiwan
    Chang Gung Med J 33:436-42. 2010
    ..A majority of the children with Prader-Willi syndrome (PWS) have global developmental delay and mental delay. The aim of this study was to investigate the developmental profiles and mental assessments among preschool children with PWS...